期刊
HUMAN MUTATION
卷 23, 期 6, 页码 631-+出版社
WILEY
DOI: 10.1002/humu.9249
关键词
homocystinuria; cystathionine beta-synthase; CBS; Polish
资金
- Project of the Charles University, Prague [MSM 111100003]
- Grant Agency of the Czech Republic [GA305/02/D167]
- Wellcome Trust International Senior Research Fellowship in Biomedical Science in Central Europe
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is an inherited disorder of homocysteine transsulfuration, which manifests by neurological, vascular and connective tissue involvement. So far, 130 pathogenic mutations have been recognized in the CBS gene. We examined 10 independent alleles in Polish patients suffering from CBS deficiency, and we detected four already described mutations (c.1224-2A>C, c.684C>A, c.833T>C, and c.442G>A) and two novel mutations (c.429C>G and c.1039+ 1G>T). The pathogenicity of the novel mutations was demonstrated by expression in E. coli. This is the first published communication on mutations leading to CBS deficiency in Poland. (C) 2004 Wiley-Liss, Inc.
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