✦ LIBER ✦

A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews

✍ Scribed by Shay Ben-Shachar; Tal Zvi; Arndt Rolfs; Andrea Breda Klobus; Yuval Yaron; Anat Bar-Shira; Avi Orr-Urtreger

Book ID: 118507171
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 475 KB
Volume: 107
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2012.08.011

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Severe scoliosis in a patient with sever

Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency

✍ Munoz, Tatiana; Patel, Jinesh; Badilla-Porras, Ramses; Kronick, Jonathan; Mercim 📂 Article 📅 2015 🏛 Elsevier Science 🌐 English ⚖ 371 KB

Increased risk of mortality associated w

Increased risk of mortality associated with a common mutation in the methylenetetrahydrofolate reductase gene (MTHFR)

✍ B.T. Heijmans; J. Gussekloo; C. Kluft; S. Droog; A.M. Lagaay; D.L. Knook; R.G.J. 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 153 KB

Mortality risk in men is associated with

Mortality risk in men is associated with a common mutation in the methylenetetrahydrofolate reductase gene (MTHFR)

✍ Heijmans, Bastiaan T; Gussekloo, Jacobijn; Kluft, Cornelis; Droog, Simone; Lagaa 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 134 KB

Methylenetetrahydrofolate reductase (MTH

Methylenetetrahydrofolate reductase (MTHFR) c677t gene variant modulates the homocysteine folate correlation in a mild folate-deficient population

✍ Alexandre C. Pereira; Isolmar Tadeu Schettert; Antônio Alberto F. Morandini Filh 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 175 KB

Methylenetetrahydrofolate reductase (MTH

Methylenetetrahydrofolate reductase (MTHFR): The incidence of mutations C677T and A1298C in the Ashkenazi Jewish population

✍ Rady, Peter L.; Tyring, Stephen K.; Hudnall, S. David; Vargas, Trini; Kellner, L 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

The polymorphic mutation C677T in the gene of MTHFR is considered a risk mutation for spina bifida and vascular disease. Another common mutation on the MTHFR gene, A1298C, has also been described as another risk mutation. We studied the frequencies of these two mutations on DNA samples from healthy

Warfarin skin necrosis associated with p

Warfarin skin necrosis associated with protein S deficiency and a mutation in the methylenetetrahydrofolate reductase gene

✍ J. S. Byrne; A. R. Abdul Razak; S. Patchett; G. M. Murphy 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB