Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria

M Coudé; J Aupetit; M T Zabot; P Kamoun; B Chadefaux-Vekemans

doi:10.1023/a:1005466601461

Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria

J Inherit Metab Dis. 1998 Dec;21(8):823-8. doi: 10.1023/a:1005466601461.

Authors

M Coudé¹, J Aupetit, M T Zabot, P Kamoun, B Chadefaux-Vekemans

Affiliation

¹ Hôpital Necker-Enfants Malades, Paris, France.

PMID: 9870207
DOI: 10.1023/a:1005466601461

Abstract

We describe four new mutations in the cystathionine beta-synthase gene: three point mutations localized in exons 3, 9 and 10 and one mutation in exon 12 which results in stop codon.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Consanguinity
Cystathionine beta-Synthase / genetics*
Exons
Homocystinuria / enzymology
Homocystinuria / genetics*
Homozygote
Humans
Male
Mutation*
Mutation, Missense
Polymorphism, Single-Stranded Conformational

Substances

Cystathionine beta-Synthase