Genetic mutation databases: Stakes and perspectives for orphan genetic diseases;Banques de données de mutations: enjeux et perspectives pour les maladies génétiques orphelines

Pathologie Biologie

Volumn 58, Issue 5, 2010, Pages 387-395

  Humbertclaude, V ^a,b   Tuffery Giraud, S ^b,c   Bareil, C ^a   Theze C ^a   Paulet, D ^c   Desmet, F O ^b   Hamroun, D ^a,b   Baux, D ^a   Girardet, A ^a   Collod Beroud G ^b   Khau Van Kien, P ^a   Roux, A F ^a   des Georges, M ^a,b   Beroud C ^a,b,c   Claustres, M ^a,b,c  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c UNIV MONTPELLIER   (France)

Author keywords

Genetic disorders; Human variation database; LSDB; Mutations

Indexed keywords

ALLELE; ARTICLE; BIOINFORMATICS; EXON; GENE IDENTIFICATION; GENE MUTATION; GENE TECHNOLOGY; GENETIC ANALYSIS; GENETIC DATABASE; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEALTH CARE DELIVERY; HUMAN GENOME; NOMENCLATURE; STOP CODON;

CODON, TERMINATOR; DATABASES, GENETIC; ETHNIC GROUPS; FORECASTING; GENE THERAPY; GENETIC DISEASES, INBORN; GENETICS, MEDICAL; GENOTYPE; HUMANS; INTERNET; MUTATION; PHENOTYPE; RARE DISEASES; RNA, ANTISENSE; TERMINOLOGY AS TOPIC; TRANSCRIPTION, GENETIC;

EID: 77957296450     PISSN: 03698114     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.patbio.2009.09.008     Document Type: Article

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