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
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria
β Scribed by Sook-Jin Lee; Dong Hwan Lee; Han-Wook Yoo; Soo Kyung Koo; Eun-Sook Park; Joo-Won Park; Hun Gil Lim; Sung-Chul Jung
- Publisher
- Nature Publishing Group
- Year
- 2005
- Tongue
- English
- Weight
- 268 KB
- Volume
- 50
- Category
- Article
- ISSN
- 1435-232X
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