UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

Human Mutation

Volumn 33, Issue 3, 2012, Pages

  Blandin, Gaelle ^a,b   Beroud, Christophe ^c   Labelle, Veronique ^d   Nguyen, Karine ^d   Wein, Nicolas ^a,b   Hamroun, Dalil ^c   Williams, Brad ^e   Monnier, Nilah ^e   Rufibach, Laura E ^e   Urtizberea, Jon Andoni ^f   Cau, Pierre ^a,b,d   Bartoli, Marc ^a,b   Lévy, Nicolas ^a,b,d   Krahn, Martin ^a,b,d  

^a AIX MARSEILLE UNIVERSITY   (France)

^b INSERM   (France)

^c UNIV MONTPELLIER   (France)

^d TIMONE HOSPITAL   (France)

^e Jain Foundation   (United States)

^f ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

DYSF; Dysferlin; LGMD; LSDB; Muscle; UMD

Indexed keywords

CALCIUM; DYSFERLIN; MESSENGER RNA;

AMINO ACID SEQUENCE; ARTICLE; BIOINFORMATICS; CALCIUM BINDING; CLINICAL FEATURE; DIAGNOSTIC VALUE; DYSFERLINOPATHY; GENE FREQUENCY; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC DATABASE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MIYOSHI MYOPATHY; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING; RNA TRANSLATION; SKELETAL MUSCLE;

COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; HUMANS; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUTATION; SOFTWARE;

EID: 84856850908     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22015     Document Type: Article

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