Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein.

Human mutation

Volumn 21, Issue 6, 2003, Pages 651-

  Becker, Kristin ^a   Robb, Stephanie A ^a   Hatton, Zandra ^a   Yau, Shu Ching ^a   Abbs, Stephen ^a   Roberts, Roland G ^a  

^a GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; GLUTAMIC ACID;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHILD; DUCHENNE MUSCULAR DYSTROPHY; GENE DELETION; GENETICS; HUMAN; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DYSTROPHIN; GLUTAMIC ACID; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; PHENOTYPE; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 1442332038     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9143     Document Type: Article

References (0)