Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. It is inherited as an autosomal recessive trait and common clinical features are: dislocation of the optic lens, osteoporosis, mental retardation, and thromboembolism. We determined the molecular basis of CBS de
The molecular basis of cystathionine ß-synthase (CBS) deficiency in UK and US patients with homocystinuria
✍ Scribed by Stuart J. Moat; Liming Bao; Brian Fowler; James R. Bonham; John H. Walter; Jan P. Kraus
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 77 KB
- Volume
- 23
- Category
- Article
- ISSN
- 1059-7794
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RT-PCR and direct sequence analyses were used to define mutations in the cystathionine b -synthase (CBS) gene in two unrelated male patients with vitamin B6 nonresponsive homocystinuria. Both patients were compound heterozygotes for CBS alleles containing point mutations. One patient had a maternall
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