Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Nicolas, Aurélie ^a,b,c   Lucchetti Miganeh, Céline ^a,b,c   Yaou, Rabah Ben ^d,e   Kaplan, Jean Claude ^e,f   Chelly, Jamel ^e,f   Leturcq, France ^e,f   Barloy Hubler, Frédérique ^a,b,c   Le Rumeur, Elisabeth ^a,b,g  

^a UNIVERSITÉ DE RENNES 1   (France)

^b CNRS   (France)

^c Universite Europeenne de Bretagne   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e Institut de Myologie GH Pitié Salpétrière ^*  (France)

^f INSTITUT COCHIN   (France)

^g UNIVERSITÉ DE RENNES 1   (France)

Author keywords

Becker muscularDystrophy; DMD gene mutations; Duchenne muscular dystrophy; Dystrophin; Phenotype genotype correlation; Spectrin like repeats

Indexed keywords

DYSTROPHIN;

ARTICLE; DMD GENE; GENE; GENE FUNCTION; GENE MUTATION; GENE STRUCTURE; GENETIC DATABASE; HUMAN; NUCLEOTIDE SEQUENCE; ONLINE SYSTEM; PROTEIN FUNCTION; PROTEIN STRUCTURE;

ADOLESCENT; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; DYSTROPHIN; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INTERNET; MALE; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; READING FRAMES;

EID: 84866988656     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-45     Document Type: Article

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