{"id":"https://openalex.org/W108195587","doi":"https://doi.org/10.1093/hmg/4.2.319","title":"Two novel mutations involved in hereditary tyrosinemia type I","display_name":"Two novel mutations involved in hereditary tyrosinemia type I","publication_year":1995,"publication_date":"1995-01-01","ids":{"openalex":"https://openalex.org/W108195587","doi":"https://doi.org/10.1093/hmg/4.2.319","mag":"108195587","pmid":"https://pubmed.ncbi.nlm.nih.gov/7757089"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/4.2.319","doi":"https://doi.org/10.1093/hmg/4.2.319","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/4.2.319","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","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":"Human Molecular Genetics","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":null,"display_name":"Maryse St-Louis","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I43406934","display_name":"Universit\u00e9 Laval","ror":"https://ror.org/04sjchr03","country_code":"CA","type":"education","lineage":["https://openalex.org/I43406934"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Maryse St-Louis","raw_affiliation_strings":["Laboratoire de G\u00e9n\u00e9tique Cellulaire et D\u00e9veloppementale, Universit\u00e9 Laval, Ste-Foy, Qu\u00e9bec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de G\u00e9n\u00e9tique Cellulaire et D\u00e9veloppementale, Universit\u00e9 Laval, Ste-Foy, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I43406934"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058878282","display_name":"Jacques Poudrier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I43406934","display_name":"Universit\u00e9 Laval","ror":"https://ror.org/04sjchr03","country_code":"CA","type":"education","lineage":["https://openalex.org/I43406934"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Jacques Poudrier","raw_affiliation_strings":["Laboratoire de G\u00e9n\u00e9tique Cellulaire et D\u00e9veloppementale, Pavillon C.E.Marchand, Universit\u00e9 Laval Ste-Foy (Qu\u00e9bec), G1K 7P4, M\u00e9decine G\u00e9n\u00e9tique et Mol\u00e9culaire"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de G\u00e9n\u00e9tique Cellulaire et D\u00e9veloppementale, Pavillon C.E.Marchand, Universit\u00e9 Laval Ste-Foy (Qu\u00e9bec), G1K 7P4, M\u00e9decine G\u00e9n\u00e9tique et Mol\u00e9culaire","institution_ids":["https://openalex.org/I43406934"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Daniel Phaneuf","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I43406934","display_name":"Universit\u00e9 Laval","ror":"https://ror.org/04sjchr03","country_code":"CA","type":"education","lineage":["https://openalex.org/I43406934"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Daniel Phaneuf","raw_affiliation_strings":["Laboratoire de G\u00e9n\u00e9tique Cellulaire et D\u00e9veloppementale, Pavillon C.E.Marchand, Universit\u00e9 Laval Ste-Foy (Qu\u00e9bec), G1K 7P4, M\u00e9decine G\u00e9n\u00e9tique et Mol\u00e9culaire"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de G\u00e9n\u00e9tique Cellulaire et D\u00e9veloppementale, Pavillon C.E.Marchand, Universit\u00e9 Laval Ste-Foy (Qu\u00e9bec), G1K 7P4, M\u00e9decine G\u00e9n\u00e9tique et Mol\u00e9culaire","institution_ids":["https://openalex.org/I43406934"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Barbara Lecierc","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I43406934","display_name":"Universit\u00e9 Laval","ror":"https://ror.org/04sjchr03","country_code":"CA","type":"education","lineage":["https://openalex.org/I43406934"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Barbara Lecierc","raw_affiliation_strings":["Laboratoire de G\u00e9n\u00e9tique Cellulaire et D\u00e9veloppementale, Pavillon C.E.Marchand, Universit\u00e9 Laval Ste-Foy (Qu\u00e9bec), G1K 7P4, M\u00e9decine G\u00e9n\u00e9tique et Mol\u00e9culaire"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de G\u00e9n\u00e9tique Cellulaire et D\u00e9veloppementale, Pavillon C.E.Marchand, Universit\u00e9 Laval Ste-Foy (Qu\u00e9bec), G1K 7P4, M\u00e9decine G\u00e9n\u00e9tique et Mol\u00e9culaire","institution_ids":["https://openalex.org/I43406934"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Rachel Laframboise","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210139308","display_name":"Centre hospitalier de l'Universit\u00e9 Laval","ror":"https://ror.org/041v96n47","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4210139308","https://openalex.org/I4405257837","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I4405256986","display_name":"Centre de recherche du CHU de Qu\u00e9bec-Universit\u00e9 Laval","ror":"https://ror.org/04rgqcd02","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405256986","https://openalex.org/I4405257837","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Rachel Laframboise","raw_affiliation_strings":["D\u00e9p. P\u00e9diatrie, Centre de recherche du CHUL Ste-Foy (Qu\u00e9bec), G1V 4G2, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9p. P\u00e9diatrie, Centre de recherche du CHUL Ste-Foy (Qu\u00e9bec), G1V 4G2, Canada","institution_ids":["https://openalex.org/I4210139308","https://openalex.org/I4405256986"]}]},{"author_position":"last","author":{"id":null,"display_name":"Robert M. Tanguay","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I43406934","display_name":"Universit\u00e9 Laval","ror":"https://ror.org/04sjchr03","country_code":"CA","type":"education","lineage":["https://openalex.org/I43406934"]}],"countries":["CA"],"is_corresponding":true,"raw_author_name":"Robert M. Tanguay","raw_affiliation_strings":["Laboratoire de G\u00e9n\u00e9tique Cellulaire et D\u00e9veloppementale, Pavillon C.E.Marchand, Universit\u00e9 Laval Ste-Foy (Qu\u00e9bec), G1K 7P4, M\u00e9decine G\u00e9n\u00e9tique et Mol\u00e9culaire"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de G\u00e9n\u00e9tique Cellulaire et D\u00e9veloppementale, Pavillon C.E.Marchand, Universit\u00e9 Laval Ste-Foy (Qu\u00e9bec), G1K 7P4, M\u00e9decine G\u00e9n\u00e9tique et Mol\u00e9culaire","institution_ids":["https://openalex.org/I43406934"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I43406934"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":0.949,"has_fulltext":false,"cited_by_count":12,"citation_normalized_percentile":{"value":0.70272572,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"4","issue":"2","first_page":"319","last_page":"320"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.0020000000949949026,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/tyrosinemia-type-1","display_name":"tyrosinemia type I","score":0.996999979019165},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.7599999904632568},{"id":"https://openalex.org/keywords/fumarylacetoacetate-hydrolase","display_name":"fumarylacetoacetate hydrolase","score":0.8930000066757202},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.699999988079071},{"id":"https://openalex.org/keywords/tyrosine-metabolism","display_name":"tyrosine metabolism","score":0.722000002861023}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7432948350906372},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7195476293563843},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.6793662905693054},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.632142186164856},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.5962885022163391},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5547086000442505},{"id":"https://openalex.org/C2781097277","wikidata":"https://www.wikidata.org/wiki/Q1122668","display_name":"Tyrosinemia","level":3,"score":0.531254231929779},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.4207966923713684},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.34024107456207275},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2936299443244934},{"id":"https://openalex.org/C2776165026","wikidata":"https://www.wikidata.org/wiki/Q188017","display_name":"Tyrosine","level":2,"score":0.24383634328842163},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0900876522064209}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002170","descriptor_name":"Canada","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006867","descriptor_name":"Hydrolases","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D006867","descriptor_name":"Hydrolases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","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":true},{"descriptor_ui":"D009664","descriptor_name":"Norway","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010455","descriptor_name":"Peptides","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D014443","descriptor_name":"Tyrosine","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D014443","descriptor_name":"Tyrosine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014443","descriptor_name":"Tyrosine","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D015153","descriptor_name":"Blotting, Western","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/hmg/4.2.319","doi":"https://doi.org/10.1093/hmg/4.2.319","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/4.2.319","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","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":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmid:7757089","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7757089","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 molecular genetics","raw_type":"Journal Article"},{"id":"pmh:oai:open-archive.highwire.org:hmg:4/2/319","doi":null,"is_oa":false,"landing_page_url":"http://hmg.oxfordjournals.org/cgi/content/short/4/2/319","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"},{"id":"mag:108195587","doi":null,"is_oa":false,"landing_page_url":"http://www.osti.gov/scitech/biblio/134772","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"The American Journal of Human Genetics","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8048999905586243}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2023814747","https://openalex.org/W2007991163","https://openalex.org/W3161960489","https://openalex.org/W3032198047","https://openalex.org/W2054345635","https://openalex.org/W3211079887","https://openalex.org/W2076800305","https://openalex.org/W2518461549","https://openalex.org/W4311287462","https://openalex.org/W2407765762"],"abstract_inverted_index":{"Maryse":[0],"St-Louis,":[1],"Jacques":[2],"Poudrier,":[3],"Daniel":[4],"Phaneuf,":[5],"Barbara":[6],"Lecierc,":[7],"Rachel":[8],"Laframboise,":[9],"Robert":[10],"M.":[11],"Tanguay;":[12],"Two":[13],"novel":[14],"mutations":[15],"involved":[16],"in":[17],"hereditary":[18],"tyros":[19]},"counts_by_year":[{"year":2017,"cited_by_count":1},{"year":2014,"cited_by_count":3}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}