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

Authors
Coude, M Aupetit, J Zabot, MT Kamoun, P Chadefaux-Vekemans, B
Citation
M. Coude et al., Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria, J INH MET D, 21(8), 1998, pp. 823-828
Citations number
17
Categorie Soggetti
Endocrinology, Nutrition & Metabolism
Journal title
JOURNAL OF INHERITED METABOLIC DISEASE
ISSN journal
01418955 → ACNP
Volume
21
Issue
8
Year of publication
1998
Pages
823 - 828
Database
ISI
SICI code
0141-8955(199812)21:8<823:FNMATC>2.0.ZU;2-Y
Abstract
We describe four new mutations in the cystathionine beta-synthase gene: thr ee point mutations localized in exons 3, 9 and 10 and one mutation in exon 12 which results in stop codon.