Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.

doi:10.1002/humu.9249

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Article

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.

Human mutation - 1 Jun 2004

Orendáè Marek, Pronicka Ewa, Kubalska Jolanta, Janosik Miroslav, Sokolová Jitka, Linnebank Michael, Koch Hans Georg, Kozich Viktor

Abstract excerpt

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...

Topics

Cystathionine beta-Synthase
DNA Mutational Analysis
Homocystinuria
Humans
Mutation
Poland

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Open in PubMed

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PMID: 15146473
DOI: 10.1002/humu.9249

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