Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects

Human Mutation

Volumn 14, Issue 5, 1999, Pages 359-368

  Tuffery Giraud, Sylvie ^a,b   Chambert, Sylvie ^a   Demaille, Jacques ^a   Claustres, Mireille ^a  

^a INSTITUTE OF HUMAN GENETICS   (France)

^b Institute of Biology   (France)

Author keywords

Becker muscular dystrophy; BMD; DMD; Duchenne muscular dystrophy; Dystrophin; PTT; Splicing defect

Indexed keywords

DYSTROPHIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CARBOXY TERMINAL SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; EXON; FRAMESHIFT MUTATION; HUMAN; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS;

BASE SEQUENCE; CODON, NONSENSE; DNA; DYSTROPHIN; FRAMESHIFT MUTATION; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER;

EID: 0032756947     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199911)14:5<359::AID-HUMU1>3.0.CO;2-K     Document Type: Article

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