Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease

Hum Genet. 2010 Jan;127(1):122.

Authors

Dau-Ming Niu¹, Hsiang-Yu Lin, Kah-Wai Chong, Ju-Hui Hsu, Hsiao-Chi Yu, Cheng-Hung Huang

Affiliation

¹ Department of Pediatrics, Taipei Veterans General Hospital, Sec. 2, Shih-Pai Road, No. 201, 112, Taipei, Taiwan ROC. dmniu@vghtpe.gov.tw

PMID: 20108436

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