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Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria

✍ 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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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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