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Characterization of Mutations in the Cystathionine β-Synthase Gene in Irish Patients with Homocystinuria

✍ Scribed by Paula M. Gallagher; Eileen Naughten; Naomi Q. Hanson; Kerry Schwichtenberg; Michelle Bignell; Min Yuan; Pat Ward; Sufin Yap; Alexander S. Whitehead; Michael Y. Tsai

Book ID
115639455
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
74 KB
Volume
65
Category
Article
ISSN
1096-7192

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Mutational analysis of the cystathionine
Mutational analysis of the cystathionine β-synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria
✍ Ross B. Gordon; Anthony J. Cox; Paul A. Dawson; Bryan T. Emmerson; Jan P. Kraus; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB 👁 1 views

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