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Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients

✍ Scribed by Bernard Aral; Marie Coudé; Jacqueline London; Joelle Aupetit; Jean-François Chassé; Marie-Thérèse Zabot; Bernadette Chadefaux-Vekemans; Pierre Kamoun

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 119 KB
Volume: 9
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1997)9:1<81::aid-humu18>3.0.co;2-l

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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