Four novel dystrophin point mutations: Detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients

European Journal of Human Genetics

Volumn 4, Issue 3, 1996, Pages 143-152

  Tuffery, Sylvie ^a  

^a INSERM   (France)

Author keywords

Duchenne muscular dystrophy; Illegitimate transcripts; Point mutation; Protein truncation test

Indexed keywords

DYSTROPHIN; MESSENGER RNA; MUTANT PROTEIN;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY; HUMAN; HUMAN CELL; LYMPHOCYTE; MALE; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD;

EID: 0030016131     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000472188     Document Type: Article

References (2)

1. D'Souza VN, Man NT, Karges W, Pillers DAM, Ray P: A novel dystrophin isoform is required for normal retinal electrophysiology. Hum Mol Genet 1995;4:837-842.
2. Chamberlain JS, Gibbs RA, RanierJE, Nguyen PN, Caskey CT: Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988;16:11141-11146.