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High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients

✍ Scribed by Paula M. Gallagher; Pat Ward; Soon Tan; Eileen Naughten; Jan P. Kraus; Grant C. Sellar; David J. McConnell; Ian Graham; Alexander S. Whitehead


Book ID
102260983
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
372 KB
Volume
6
Category
Article
ISSN
1059-7794

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Mutational analysis of the cystathionine
✍ 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