Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria
Jazyk angličtina Země Spojené státy americké Médium print
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
15146473
DOI
10.1002/humu.9249
Knihovny.cz E-zdroje
- MeSH
- cystathionin-beta-synthasa nedostatek genetika MeSH
- homocystinurie enzymologie genetika MeSH
- lidé MeSH
- mutace * MeSH
- mutační analýza DNA MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Polsko MeSH
- Názvy látek
- cystathionin-beta-synthasa MeSH
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.
Citace poskytuje Crossref.org
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity
OMIM
236200
