A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.

Human mutation

Volumn 17, Issue 3, 2001, Pages 239-

  Sironi, M ^a   Corti, S ^a   Locatelli, F ^a   Cagliani, R ^a   Comi, G P ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DYSTROPHIN; MESSENGER RNA;

ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; CHEMISTRY; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENETICS; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALTERNATIVE SPLICING; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DYSTROPHIN; EXONS; HUMANS; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 18044400501     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.18     Document Type: Article

References (0)