𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Two novel mutations in the cystathionine β-synthase gene of homocystinuric patients*

✍ Scribed by TSAI, M; WONG, P; GARG, U; HANSON, N; SCHWICHTENBERG, K

Book ID
122916197
Publisher
Adis International Limited (now part of Wolters Kluwer Health)
Year
1997
Tongue
English
Weight
907 KB
Volume
2
Category
Article
ISSN
1532-8619

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Four novel mutations in the cystathionin
Four novel mutations in the cystathionine β-synthase gene: Effect of a second linked mutation on the severity of the homocystinuric phenotype
✍ Raffaella de Franchis; Eva Kraus; Viktor Kozich; Gianfranco Sebastio; Jan P. Kra 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 231 KB

Homocystinuria due to cystathionine b-synthase (CBS) deficiency is frequently caused by missense mutations. In this article, we report four novel missense mutations in the CBS gene: 172C®T (R58W) linked in cis with A114V; 376A®G (M126V); 904G®A (E302K); and 1006C®T (R336C). The CBS activity of the c

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