{"id":"https://openalex.org/W1998573128","doi":"https://doi.org/10.1002/humu.9406","title":"Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing","display_name":"Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing","publication_year":2006,"publication_date":"2006-02-09","ids":{"openalex":"https://openalex.org/W1998573128","doi":"https://doi.org/10.1002/humu.9406","mag":"1998573128","pmid":"https://pubmed.ncbi.nlm.nih.gov/16470588"},"language":"en","primary_location":{"id":"doi:10.1002/humu.9406","doi":"https://doi.org/10.1002/humu.9406","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.9406","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.9406","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.9406","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5042373607","display_name":"Matthias Titeux","orcid":"https://orcid.org/0000-0001-7386-2769","observed_orcids":["https://orcid.org/0000-0001-7386-2769"]},"institutions":[{"id":"https://openalex.org/I134560555","display_name":"Universit\u00e9 Toulouse III - Paul Sabatier","ror":"https://ror.org/02v6kpv12","country_code":"FR","type":"education","lineage":["https://openalex.org/I134560555","https://openalex.org/I4405258862"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Matthias Titeux","raw_affiliation_strings":["Inserm, U563, Toulouse, F-31059, France","These authors contributed equally to this work","Universit\u00e9 Paul Sabatier, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm, U563, Toulouse, F-31059, France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"These authors contributed equally to this work","institution_ids":[]},{"raw_affiliation_string":"Universit\u00e9 Paul Sabatier, Toulouse, France","institution_ids":["https://openalex.org/I134560555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015707587","display_name":"Jos\u00e9 Enrique Mej\u00eda","orcid":"https://orcid.org/0000-0002-2208-8870","observed_orcids":["https://orcid.org/0000-0002-2208-8870"]},"institutions":[{"id":"https://openalex.org/I134560555","display_name":"Universit\u00e9 Toulouse III - Paul Sabatier","ror":"https://ror.org/02v6kpv12","country_code":"FR","type":"education","lineage":["https://openalex.org/I134560555","https://openalex.org/I4405258862"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jos\u00e9 Enrique Mej\u00eda","raw_affiliation_strings":["Inserm, U563, Toulouse, F-31059 France; Universite\u0301 Paul Sabatier, Toulouse, France","These authors contributed equally to this work","Inserm, U563, Toulouse, F-31059 France","Universit\u00e9 Paul Sabatier, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm, U563, Toulouse, F-31059 France; Universite\u0301 Paul Sabatier, Toulouse, France","institution_ids":["https://openalex.org/I134560555","https://openalex.org/I154526488"]},{"raw_affiliation_string":"These authors contributed equally to this work","institution_ids":[]},{"raw_affiliation_string":"Inserm, U563, Toulouse, F-31059 France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Universit\u00e9 Paul Sabatier, Toulouse, France","institution_ids":["https://openalex.org/I134560555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036402803","display_name":"Lucin\u00e9 Mejlumian","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I134560555","display_name":"Universit\u00e9 Toulouse III - Paul Sabatier","ror":"https://ror.org/02v6kpv12","country_code":"FR","type":"education","lineage":["https://openalex.org/I134560555","https://openalex.org/I4405258862"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Lucin\u00e9 Mejlumian","raw_affiliation_strings":["Inserm, U563, Toulouse, F-31059 France; Universite\u0301 Paul Sabatier, Toulouse, France","Inserm, U563, Toulouse, F-31059 France","Universit\u00e9 Paul Sabatier, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm, U563, Toulouse, F-31059 France; Universite\u0301 Paul Sabatier, Toulouse, France","institution_ids":["https://openalex.org/I134560555","https://openalex.org/I154526488"]},{"raw_affiliation_string":"Inserm, U563, Toulouse, F-31059 France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Universit\u00e9 Paul Sabatier, Toulouse, France","institution_ids":["https://openalex.org/I134560555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008494483","display_name":"Sylvie Bourthoumieu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210118469","display_name":"Centre Hospitalier Universitaire de Limoges","ror":"https://ror.org/01tc2d264","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210118469"]},{"id":"https://openalex.org/I4210142031","display_name":"H\u00f4pital Universitaire Dupuytren","ror":"https://ror.org/051s3e988","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210142031"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sylvie Bourthoumieu","raw_affiliation_strings":["Centre Hospitalier Universitaire de Limoges, Dupuytren Hospital, Department of Histology and Cytogenetics, Limoges, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre Hospitalier Universitaire de Limoges, Dupuytren Hospital, Department of Histology and Cytogenetics, Limoges, France","institution_ids":["https://openalex.org/I4210118469","https://openalex.org/I4210142031"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077346754","display_name":"Sandra Mirval","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I134560555","display_name":"Universit\u00e9 Toulouse III - Paul Sabatier","ror":"https://ror.org/02v6kpv12","country_code":"FR","type":"education","lineage":["https://openalex.org/I134560555","https://openalex.org/I4405258862"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sandra Mirval","raw_affiliation_strings":["Inserm, U563, Toulouse, F-31059 France; Universite\u0301 Paul Sabatier, Toulouse, France","Inserm, U563, Toulouse, F-31059 France","Universit\u00e9 Paul Sabatier, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm, U563, Toulouse, F-31059 France; Universite\u0301 Paul Sabatier, Toulouse, France","institution_ids":["https://openalex.org/I134560555","https://openalex.org/I154526488"]},{"raw_affiliation_string":"Inserm, U563, Toulouse, F-31059 France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Universit\u00e9 Paul Sabatier, Toulouse, France","institution_ids":["https://openalex.org/I134560555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051192800","display_name":"Laure Tonasso\u2010Calvi\u00e8re","orcid":"https://orcid.org/0000-0001-5140-074X","observed_orcids":["https://orcid.org/0000-0001-5140-074X"]},"institutions":[{"id":"https://openalex.org/I134560555","display_name":"Universit\u00e9 Toulouse III - Paul Sabatier","ror":"https://ror.org/02v6kpv12","country_code":"FR","type":"education","lineage":["https://openalex.org/I134560555","https://openalex.org/I4405258862"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Laure Tonasso","raw_affiliation_strings":["Inserm, U563, Toulouse, F-31059 France; Universite\u0301 Paul Sabatier, Toulouse, France","Inserm, U563, Toulouse, F-31059 France","Universit\u00e9 Paul Sabatier, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm, U563, Toulouse, F-31059 France; Universite\u0301 Paul Sabatier, Toulouse, France","institution_ids":["https://openalex.org/I134560555","https://openalex.org/I154526488"]},{"raw_affiliation_string":"Inserm, U563, Toulouse, F-31059 France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Universit\u00e9 Paul Sabatier, Toulouse, France","institution_ids":["https://openalex.org/I134560555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103411050","display_name":"Michel Heller","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michel Heller","raw_affiliation_strings":["Universite\u0301 de Me\u0301decine Paris-XIII, Laboratoire d'Histologie et de The\u0301rapie Ge\u0301nique, Bobigny, France","Universit\u00e9 de M\u00e9decine Paris-XIII, Laboratoire d'Histologie et de Th\u00e9rapie G\u00e9nique, Bobigny, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universite\u0301 de Me\u0301decine Paris-XIII, Laboratoire d'Histologie et de The\u0301rapie Ge\u0301nique, Bobigny, France","institution_ids":[]},{"raw_affiliation_string":"Universit\u00e9 de M\u00e9decine Paris-XIII, Laboratoire d'Histologie et de Th\u00e9rapie G\u00e9nique, Bobigny, France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042251985","display_name":"Catherine Prost\u2010Squarcioni","orcid":"https://orcid.org/0000-0002-9197-936X","observed_orcids":["https://orcid.org/0000-0002-9197-936X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Catherine Prost-Squarcioni","raw_affiliation_strings":["Universite\u0301 de Me\u0301decine Paris-XIII, Laboratoire d'Histologie et de The\u0301rapie Ge\u0301nique, Bobigny, France","Universit\u00e9 de M\u00e9decine Paris-XIII, Laboratoire d'Histologie et de Th\u00e9rapie G\u00e9nique, Bobigny, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universite\u0301 de Me\u0301decine Paris-XIII, Laboratoire d'Histologie et de The\u0301rapie Ge\u0301nique, Bobigny, France","institution_ids":[]},{"raw_affiliation_string":"Universit\u00e9 de M\u00e9decine Paris-XIII, Laboratoire d'Histologie et de Th\u00e9rapie G\u00e9nique, Bobigny, France","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5015690708","display_name":"Alain Hovnanian","orcid":"https://orcid.org/0000-0003-3412-7512","observed_orcids":["https://orcid.org/0000-0003-3412-7512"]},"institutions":[{"id":"https://openalex.org/I134560555","display_name":"Universit\u00e9 Toulouse III - Paul Sabatier","ror":"https://ror.org/02v6kpv12","country_code":"FR","type":"education","lineage":["https://openalex.org/I134560555","https://openalex.org/I4405258862"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210118469","display_name":"Centre Hospitalier Universitaire de Limoges","ror":"https://ror.org/01tc2d264","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210118469"]},{"id":"https://openalex.org/I4210142031","display_name":"H\u00f4pital Universitaire Dupuytren","ror":"https://ror.org/051s3e988","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210142031"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Alain Hovnanian","raw_affiliation_strings":["Centre Hospitalier Universitaire de Limoges, Dupuytren Hospital, Department of Histology and Cytogenetics, Limoges, France","Inserm, U563, Toulouse, F-31059 France; Universite\u0301 Paul Sabatier, Toulouse, France","Inserm, U563, Toulouse, F-31059 France","Universit\u00e9 Paul Sabatier, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre Hospitalier Universitaire de Limoges, Dupuytren Hospital, Department of Histology and Cytogenetics, Limoges, France","institution_ids":["https://openalex.org/I4210118469","https://openalex.org/I4210142031"]},{"raw_affiliation_string":"Inserm, U563, Toulouse, F-31059 France; Universite\u0301 Paul Sabatier, Toulouse, France","institution_ids":["https://openalex.org/I134560555","https://openalex.org/I154526488"]},{"raw_affiliation_string":"Inserm, U563, Toulouse, F-31059 France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Universit\u00e9 Paul Sabatier, Toulouse, France","institution_ids":["https://openalex.org/I134560555"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5015690708"],"corresponding_institution_ids":["https://openalex.org/I134560555","https://openalex.org/I154526488","https://openalex.org/I4210118469","https://openalex.org/I4210142031"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":0.4804,"has_fulltext":true,"cited_by_count":19,"citation_normalized_percentile":{"value":0.58203159,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"27","issue":"3","first_page":"291","last_page":"292"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11650","display_name":"Skin and Cellular Biology Research","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11650","display_name":"Skin and Cellular Biology Research","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/recessive-dystrophic-epidermolysis-bullosa","display_name":"recessive dystrophic epidermolysis bullosa","score":1.0},{"id":"https://openalex.org/keywords/col7a1","display_name":"COL7A1","score":0.9779999852180481},{"id":"https://openalex.org/keywords/type-vii-collagen","display_name":"type VII collagen","score":0.9649999737739563},{"id":"https://openalex.org/keywords/hemizygosity","display_name":"hemizygosity","score":0.9200000166893005},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9449999928474426},{"id":"https://openalex.org/keywords/aberrant-splicing","display_name":"aberrant splicing","score":0.7400000095367432},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.7839999794960022}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.785477876663208},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7549169063568115},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6413190364837646},{"id":"https://openalex.org/C2776559720","wikidata":"https://www.wikidata.org/wiki/Q3589131","display_name":"Epidermolysis bullosa dystrophica","level":3,"score":0.637971818447113},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6371487379074097},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.546381950378418},{"id":"https://openalex.org/C19218775","wikidata":"https://www.wikidata.org/wiki/Q22325581","display_name":"Anchoring fibrils","level":3,"score":0.46744096279144287},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.45928215980529785},{"id":"https://openalex.org/C2781207856","wikidata":"https://www.wikidata.org/wiki/Q923020","display_name":"Epidermolysis bullosa","level":2,"score":0.4365549683570862},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4327341914176941},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.08629000186920166},{"id":"https://openalex.org/C87555872","wikidata":"https://www.wikidata.org/wiki/Q3141316","display_name":"Ultrastructure","level":2,"score":0.0},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016108","descriptor_name":"Epidermolysis Bullosa Dystrophica","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D016108","descriptor_name":"Epidermolysis Bullosa Dystrophica","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D024143","descriptor_name":"Collagen Type VII","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/humu.9406","doi":"https://doi.org/10.1002/humu.9406","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.9406","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.9406","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:16470588","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16470588","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human mutation","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1002/humu.9406","doi":"https://doi.org/10.1002/humu.9406","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.9406","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.9406","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1998573128.pdf","grobid_xml":"https://content.openalex.org/works/W1998573128.grobid-xml"},"referenced_works_count":24,"referenced_works":["https://openalex.org/W1718065612","https://openalex.org/W1964758221","https://openalex.org/W1973859086","https://openalex.org/W1994286344","https://openalex.org/W1997340026","https://openalex.org/W2000327471","https://openalex.org/W2012046594","https://openalex.org/W2021859278","https://openalex.org/W2024039709","https://openalex.org/W2042173676","https://openalex.org/W2045131720","https://openalex.org/W2063318299","https://openalex.org/W2067931945","https://openalex.org/W2072432297","https://openalex.org/W2082879855","https://openalex.org/W2094036101","https://openalex.org/W2114503745","https://openalex.org/W2122378824","https://openalex.org/W2142053774","https://openalex.org/W2150722878","https://openalex.org/W2160393258","https://openalex.org/W2165954869","https://openalex.org/W2729475883","https://openalex.org/W4238949844"],"related_works":["https://openalex.org/W2441826033","https://openalex.org/W2288237040","https://openalex.org/W1466542983","https://openalex.org/W2606684212","https://openalex.org/W2081731304","https://openalex.org/W4366171888","https://openalex.org/W4405076214","https://openalex.org/W2605767297","https://openalex.org/W1981238450","https://openalex.org/W4285984722"],"abstract_inverted_index":{"Loss-of-function":[0],"mutations":[1],"in":[2,43,59,66,103,171],"the":[3,11,15,30,51,97,144,147,151,162,165,172,177],"gene":[4],"encoding":[5],"type":[6],"VII":[7,156,189],"collagen,":[8],"COL7A1,":[9],"are":[10],"molecular":[12],"basis":[13],"of":[14,29,33,46,54,101,133,146,154,164,169],"blistering":[16],"skin":[17],"disorder,":[18],"recessive":[19],"dystrophic":[20],"epidermolysis":[21],"bullosa":[22],"(RDEB).":[23],"COL7A1":[24,64,102],"maps":[25],"to":[26,40,75,81,86,124,138],"a":[27,55,107,125],"region":[28],"short":[31],"arm":[32],"chromosome":[34,60],"3":[35],"that":[36,62,96,129,143,183],"has":[37],"been":[38],"found":[39],"be":[41,139],"deleted":[42],"many":[44],"types":[45],"malignancies.":[47],"We":[48,94,141],"have":[49,87],"characterized":[50],"first":[52],"case":[53],"large":[56],"genomic":[57],"deletion":[58,72],"3p21.31":[61],"removes":[63],"entirely":[65],"an":[67,117],"RDEB":[68,170,181],"patient.":[69],"This":[70,114,158],"interstitial":[71],"spans":[73],"255":[74],"520":[76],"kb":[77],"and":[78,122,136],"encompasses":[79],"9":[80],"15":[82],"genes,":[83],"but":[84],"seems":[85],"no":[88],"pathological":[89],"consequences":[90],"other":[91],"than":[92],"RDEB.":[93],"show":[95],"second,":[98],"hemizygous":[99],"allele":[100],"this":[104],"patient":[105],"bears":[106],"base":[108],"substitution":[109],"within":[110],"exon":[111],"94,":[112],"c.7245G>A.":[113],"translates":[115],"into":[116],"amino":[118],"acid":[119],"substitution,":[120],"p.M2415I,":[121],"leads":[123],"complex":[126],"splicing":[127,148],"abnormality":[128],"allows":[130],"marginal":[131],"levels":[132],"functional":[134],"mRNA":[135],"protein":[137],"synthesized.":[140],"propose":[142],"leakiness":[145],"defect":[149],"enables":[150],"partial":[152],"rescue":[153],"collagen":[155,188],"deficiency.":[157,190],"is":[159],"consistent":[160],"with":[161,176],"diagnosis":[163],"moderately":[166],"severe":[167,179],"form":[168],"proband,":[173],"at":[174],"variance":[175],"most":[178],"form,":[180],"Hallopeau-Siemens,":[182],"would":[184],"arise":[185],"from":[186],"complete":[187]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
