Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease
Hum Genet
.
2010 Jan;127(1):122-3.
Authors
Hsiang-Yu Lin
1
,
Dau-Ming Niu
,
Kah-Wai Chong
,
Ju-Hui Hsu
,
Hsiao-Chi Yu
,
Cheng-Hung Huang
Affiliation
1
Department of Pediatrics, Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College, Sec. 2, Chung-Shan North Road, No.92, 10449, Taipei, Taiwan ROC.
PMID:
20108401
No abstract available
MeSH terms
Codon / genetics
Fabry Disease / enzymology
Fabry Disease / genetics*
Humans
Mutation, Missense*
alpha-Galactosidase / blood
alpha-Galactosidase / genetics*
Substances
Codon
alpha-Galactosidase