Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. Online.

Human mutation

Volumn 11, Issue 6, 1998, Pages 483-

  Matsumura, T ^a   Osaka, H ^a   Sugiyama, N ^a   Kawanishi, C ^a   Maruyama, Y ^a   Suzuki, K ^a   Onishi, H ^a   Yamada, Y ^a   Morita, M ^a   Aoki, M ^a   Kosaka, K ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE;

ALTERNATIVE RNA SPLICING; ARTICLE; ENZYMOLOGY; FABRY DISEASE; FRAMESHIFT MUTATION; GENETICS; HUMAN; INTRON;

ALPHA-GALACTOSIDASE; ALTERNATIVE SPLICING; FABRY DISEASE; FRAMESHIFT MUTATION; HUMANS; INTRONS;

MLCS; MLOWN;

EID: 17744401632     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1998)11:6<483::aid-humu18>3.3.co;2-u     Document Type: Article

References (0)