✦ LIBER ✦

Four novel mutations at the cystathionine β-synthase locus causing homocystinuria

✍ Scribed by M. Coudé; J. Aupetit; M. T. Zabot; P. Kamoun; B. Chadefaux-Vekemans

Book ID: 110225032
Publisher: Springer
Year: 1998
Tongue: English
Weight: 64 KB
Volume: 21
Category: Article
ISSN: 0141-8955
DOI: 10.1023/a:1005466601461

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Characterization of Mutations in the Cys

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

✍ Paula M. Gallagher; Eileen Naughten; Naomi Q. Hanson; Kerry Schwichtenberg; Mich 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 74 KB

Homocysteine response to methionine chal

Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ-synthase mutations

✍ M. P. Sperandeo; M. Candito; G. Sebastio; M. O. Rolland; C. Turc-Carel; H. Giudi 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 483 KB

Two novel mutations in the cystathionine

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

✍ TSAI, M; WONG, P; GARG, U; HANSON, N; SCHWICHTENBERG, K 📂 Article 📅 1997 🏛 Adis International Limited (now part of Wolters Kl 🌐 English ⚖ 907 KB

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

Two novel missense mutations in the cyst

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

✍ Leo A. J. Kluijtmans; Henk J. Blom; Godfried H. J. Boers; Bernard A. Oost; Frans 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 160 KB

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