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Characterization of cystathionine β-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6

✍ Scribed by Marisel De Lucca; Liliana Casique


Book ID
116987459
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
229 KB
Volume
81
Category
Article
ISSN
1096-7192

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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