نتایج جستجو برای: methylenetetrahydrofolate

تعداد نتایج: 3961  

Journal: :Egyptian Journal of Medical Human Genetics 2022

Abstract Background Acute myocardial infarction (AMI) is a leading cause of death and morbidity around the world. Although association between thrombophilia AMI well-established, controversial data are present on thrombophilic polymorphisms AMI. The aim this study was to investigate three including factor V Leiden ( FVL ), MTHFRC677T (methylenetetrahydrofolate reductase), Coagulation XIIIVal34L...

Journal: :Molecular genetics and metabolism 2012
Shay Ben-Shachar Tal Zvi Arndt Rolfs Andrea Breda Klobus Yuval Yaron Anat Bar-Shira Avi Orr-Urtreger

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish Bukharian origin. This mutation generates an abnormal splicing and early termination codon. A carrier frequency of 1:39 (5/196) was determined among unrelated healthy Bukharian Jews. Given the disease...

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