A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews-Reference-Cited by-同舟云学术

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

Published:2012-11 Issue:3 Volume:107 Page:608-610
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Ben-Shachar Shay,Zvi Tal,Rolfs Arndt,Breda Klobus Andrea,Yaron Yuval,Bar-Shira Anat,Orr-Urtreger Avi

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference8 articles.

1. Disorders of transsulfuration;Mudd,2001

2. A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency;Skovby;Mol. Genet. Metab.,2010

3. Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy;Prasad;Brain Dev.,2011

4. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification;Goyette;Nature. Genet.,1994

5. Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency;Strauss;Mol. Genet. Metab.,2007

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency;Journal of Inherited Metabolic Disease;2016-11-30

2. Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency;Human Mutation;2016-03-18

3. A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin;Molecular Genetics and Metabolism;2016-01

4. Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients;Human Mutation;2015-04-27

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