{"id":"https://openalex.org/W2079049537","doi":"https://doi.org/10.1111/j.1365-2133.1997.tb03918.x","title":"Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation","display_name":"Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation","publication_year":1997,"publication_date":"1997-06-01","ids":{"openalex":"https://openalex.org/W2079049537","doi":"https://doi.org/10.1111/j.1365-2133.1997.tb03918.x","mag":"2079049537","pmid":"https://pubmed.ncbi.nlm.nih.gov/9217810"},"language":"en","primary_location":{"id":"doi:10.1111/j.1365-2133.1997.tb03918.x","doi":"https://doi.org/10.1111/j.1365-2133.1997.tb03918.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1365-2133.1997.tb03918.x","pdf_url":null,"source":{"id":"https://openalex.org/S45720283","display_name":"British Journal of Dermatology","issn_l":"0007-0963","issn":["0007-0963","1365-2133"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Dermatology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109563539","display_name":"James R. McMillan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1324925910","display_name":"St Thomas' Hospital","ror":"https://ror.org/054gk2851","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324925910","https://openalex.org/I200166805","https://openalex.org/I4210111135"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"J.R. MCMILLAN","raw_affiliation_strings":["St John's Institute of Dermatology (UMDS), St. Thomas' Hospital, London, U.K"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"St John's Institute of Dermatology (UMDS), St. Thomas' Hospital, London, U.K","institution_ids":["https://openalex.org/I1324925910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091680581","display_name":"John Alexander McGrath","orcid":"https://orcid.org/0000-0002-3708-9964","observed_orcids":["https://orcid.org/0000-0002-3708-9964","https://orcid.org/0000-0002-4792-6068","https://orcid.org/0000-0001-9416-9912"]},"institutions":[{"id":"https://openalex.org/I1324925910","display_name":"St Thomas' Hospital","ror":"https://ror.org/054gk2851","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324925910","https://openalex.org/I200166805","https://openalex.org/I4210111135"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"J.A. MCGRATH","raw_affiliation_strings":["St John's Institute of Dermatology (UMDS), St. Thomas' Hospital, London, U.K"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"St John's Institute of Dermatology (UMDS), St. Thomas' Hospital, London, U.K","institution_ids":["https://openalex.org/I1324925910"]}]},{"author_position":"middle","author":{"id":null,"display_name":"L. PULKKINEN","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L. PULKKINEN","raw_affiliation_strings":["Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia PA, U.S.A"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia PA, U.S.A","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007101396","display_name":"Atsushi Kon","orcid":"https://orcid.org/0000-0001-9460-8786","observed_orcids":["https://orcid.org/0000-0001-9460-8786"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. KON","raw_affiliation_strings":["Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia PA, U.S.A"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia PA, U.S.A","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046060163","display_name":"Robert E. Burgeson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R.E. BURGESON","raw_affiliation_strings":["Department of Cutaneous Biology Research Center, Charleston MA, U.S.A"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cutaneous Biology Research Center, Charleston MA, U.S.A","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111551156","display_name":"J.\u2010P. Ortonne","orcid":null,"observed_orcids":[]},"institutions":[{"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":"J-P. ORTONNE","raw_affiliation_strings":["Department of U385 INSERM, Facult\u00e9 de M\u00e9dicine, Nice Cedex 2, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of U385 INSERM, Facult\u00e9 de M\u00e9dicine, Nice Cedex 2, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029119397","display_name":"Guerrino Meneguzzi","orcid":"https://orcid.org/0000-0002-1609-6540","observed_orcids":["https://orcid.org/0000-0002-1609-6540"]},"institutions":[{"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":"G. MENEGUZZI","raw_affiliation_strings":["Department of U385 INSERM, Facult\u00e9 de M\u00e9dicine, Nice Cedex 2, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of U385 INSERM, Facult\u00e9 de M\u00e9dicine, Nice Cedex 2, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032533037","display_name":"Jouni Uitto","orcid":"https://orcid.org/0000-0003-4639-807X","observed_orcids":["https://orcid.org/0000-0003-4639-807X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. UITTO","raw_affiliation_strings":["Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia PA, U.S.A"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia PA, U.S.A","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112718117","display_name":"Robin A.J. Eady","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1324925910","display_name":"St Thomas' Hospital","ror":"https://ror.org/054gk2851","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324925910","https://openalex.org/I200166805","https://openalex.org/I4210111135"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"R.A.J. EADY","raw_affiliation_strings":["St John's Institute of Dermatology (UMDS), St. Thomas' Hospital, London, U.K"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"St John's Institute of Dermatology (UMDS), St. Thomas' Hospital, London, U.K","institution_ids":["https://openalex.org/I1324925910"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5091680581"],"corresponding_institution_ids":["https://openalex.org/I1324925910"],"apc_list":{"value":3731,"currency":"GBP","value_usd":4920},"apc_paid":null,"fwci":0.5586,"has_fulltext":false,"cited_by_count":29,"citation_normalized_percentile":{"value":0.57595993,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"136","issue":"6","first_page":"817","last_page":"822"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11650","display_name":"Skin and Cellular Biology Research","score":1.0,"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":1.0,"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":0.0,"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/T11730","display_name":"Autoimmune Bullous Skin Diseases","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/junctional-epidermolysis-bullosa","display_name":"junctional epidermolysis bullosa","score":0.9990000128746033},{"id":"https://openalex.org/keywords/laminin-5","display_name":"laminin-5","score":0.996999979019165},{"id":"https://openalex.org/keywords/lama3","display_name":"LAMA3","score":0.765999972820282},{"id":"https://openalex.org/keywords/lamb3","display_name":"LAMB3","score":1.0},{"id":"https://openalex.org/keywords/lamc2","display_name":"LAMC2","score":1.0},{"id":"https://openalex.org/keywords/dermal-epidermal-junction","display_name":"basement membrane zone","score":0.9570000171661377},{"id":"https://openalex.org/keywords/gene-mutation-screening","display_name":"gene mutation screening","score":0.628000020980835},{"id":"https://openalex.org/keywords/immunohistochemistry-limitations","display_name":"immunohistochemistry limitations","score":0.703000009059906}],"concepts":[{"id":"https://openalex.org/C2780377952","wikidata":"https://www.wikidata.org/wiki/Q6311810","display_name":"Junctional epidermolysis bullosa (veterinary medicine)","level":4,"score":0.8964834213256836},{"id":"https://openalex.org/C2779814568","wikidata":"https://www.wikidata.org/wiki/Q58345","display_name":"Laminin","level":3,"score":0.8568699359893799},{"id":"https://openalex.org/C2781207856","wikidata":"https://www.wikidata.org/wiki/Q923020","display_name":"Epidermolysis bullosa","level":2,"score":0.8104501962661743},{"id":"https://openalex.org/C204232928","wikidata":"https://www.wikidata.org/wiki/Q899285","display_name":"Immunohistochemistry","level":2,"score":0.66432785987854},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5074891448020935},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4942319691181183},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4907627999782562},{"id":"https://openalex.org/C36394416","wikidata":"https://www.wikidata.org/wiki/Q949267","display_name":"Immunoglobulin light chain","level":3,"score":0.4837929904460907},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.4531559944152832},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.4274076819419861},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.42730778455734253},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.41458773612976074},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.23666489124298096},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.20422425866127014},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.16665592789649963},{"id":"https://openalex.org/C189165786","wikidata":"https://www.wikidata.org/wiki/Q193825","display_name":"Extracellular matrix","level":2,"score":0.15376335382461548}],"mesh":[{"descriptor_ui":"D000097794","descriptor_name":"Kalinin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000911","descriptor_name":"Antibodies, Monoclonal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","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":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005804","descriptor_name":"Genes, Lethal","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":"D007150","descriptor_name":"Immunohistochemistry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008856","descriptor_name":"Microscopy, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012867","descriptor_name":"Skin","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D012867","descriptor_name":"Skin","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D015815","descriptor_name":"Cell Adhesion Molecules","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":true},{"descriptor_ui":"D015815","descriptor_name":"Cell Adhesion Molecules","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015815","descriptor_name":"Cell Adhesion Molecules","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D016109","descriptor_name":"Epidermolysis Bullosa, Junctional","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1111/j.1365-2133.1997.tb03918.x","doi":"https://doi.org/10.1111/j.1365-2133.1997.tb03918.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1365-2133.1997.tb03918.x","pdf_url":null,"source":{"id":"https://openalex.org/S45720283","display_name":"British Journal of Dermatology","issn_l":"0007-0963","issn":["0007-0963","1365-2133"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Dermatology","raw_type":"journal-article"},{"id":"doi:10.1046/j.1365-2133.1997.01837.x","doi":"https://doi.org/10.1046/j.1365-2133.1997.01837.x","is_oa":false,"landing_page_url":"https://doi.org/10.1046/j.1365-2133.1997.01837.x","pdf_url":null,"source":{"id":"https://openalex.org/S45720283","display_name":"British Journal of Dermatology","issn_l":"0007-0963","issn":["0007-0963","1365-2133"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Dermatology","raw_type":"journal-article"},{"id":"pmid:9217810","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9217810","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":"The British journal of dermatology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8048999905586243,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G5105725892","display_name":"Program Project Grant","funder_award_id":"P01AR038923","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"}],"funders":[{"id":"https://openalex.org/F4320337362","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W1552753876","https://openalex.org/W1639755981","https://openalex.org/W1971678284","https://openalex.org/W1972340430","https://openalex.org/W1976103573","https://openalex.org/W1992145299","https://openalex.org/W1996059365","https://openalex.org/W2010427919","https://openalex.org/W2023333831","https://openalex.org/W2030125850","https://openalex.org/W2036828715","https://openalex.org/W2041429746","https://openalex.org/W2043976294","https://openalex.org/W2062108743","https://openalex.org/W2070053893","https://openalex.org/W2072041699","https://openalex.org/W2081702632","https://openalex.org/W2083477279","https://openalex.org/W2093562377","https://openalex.org/W2111909780","https://openalex.org/W2117250276","https://openalex.org/W2138316626","https://openalex.org/W2145911955","https://openalex.org/W4235224408"],"related_works":["https://openalex.org/W1967477361","https://openalex.org/W2026109887","https://openalex.org/W2079597989","https://openalex.org/W2997132901","https://openalex.org/W2615050859","https://openalex.org/W2030125850","https://openalex.org/W2145911955","https://openalex.org/W2061344843","https://openalex.org/W1976577773","https://openalex.org/W1996883713"],"abstract_inverted_index":{"The":[0,165],"anchoring":[1],"filament":[2],"protein":[3],"laminin":[4,67,118,129,194,210],"5":[5,68,119,130,195,211],"is":[6,52,185,203],"composed":[7],"of":[8,32,56,59,73,94,145,171,192,216],"three":[9,34,61],"polypeptide":[10],"chains":[11,158],"(alpha":[12],"3,":[13,100,177],"beta":[14,101,178],"3":[15,102,179],"and":[16,26,103,180,202],"gamma":[17,104,181],"2)":[18],"each":[19],"encoded":[20],"by":[21],"separate":[22],"genes":[23,35,62,197],"(LAMA3,":[24],"LAMB3":[25],"LAMC2,":[27],"respectively).":[28],"Mutations":[29],"in":[30,70,87,108,115,139,150,162,206,214],"any":[31],"these":[33,60],"may":[36],"give":[37],"rise":[38],"to":[39],"the":[40,65,95,117,128,133,151,155,172,193,199],"autosomal":[41],"recessive":[42],"blistering":[43],"skin":[44],"disease,":[45],"junctional":[46,74,112,217],"epidermolysis":[47,75,113,218],"bullosa.":[48,76,219],"At":[49],"present,":[50],"there":[51],"no":[53],"easy":[54],"way":[55],"predicting":[57],"which":[58,191],"might":[63,84],"harbour":[64],"pathogenetic":[66,200],"mutations":[69,120,134,213],"a":[71,142,148,187],"case":[72],"In":[77],"this":[78,88],"study,":[79],"we":[80],"assessed":[81],"whether":[82],"immunohistochemistry":[83],"be":[85],"helpful":[86],"regard.":[89],"We":[90],"performed":[91],"immunohistochemical":[92,169],"labelling":[93,126,146,170],"dermal-epidermal":[96,173],"junction":[97,174],"using":[98,175],"alpha":[99,176],"2":[105,182],"chain-specific":[106,183],"antibodies":[107,184],"11":[109],"patients":[110],"with":[111],"bullosa,":[114],"whom":[116],"had":[121],"been":[122],"previously":[123],"delineated.":[124],"Although,":[125],"for":[127,154,190,208],"chain":[131,196],"bearing":[132],"was":[135,159],"attenuated":[136],"or":[137,147],"undetectable":[138],"all":[140,163],"cases,":[141],"complete":[143],"absence":[144],"reduction":[149],"staining":[152],"intensity":[153],"other":[156],"two":[157],"also":[160],"seen":[161],"cases.":[164],"results":[166],"showed":[167],"that":[168],"not":[186],"specific":[188],"indicator":[189],"contains":[198],"mutations,":[201],"therefore":[204],"unreliable":[205],"screening":[207],"individual":[209],"gene":[212],"cases":[215]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2021,"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":1},{"year":2013,"cited_by_count":3}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}