نتایج جستجو برای: methylenetetrahydrofolate reductase gene

تعداد نتایج: 1173819  

2012
Ahmad Poursadegh Zonouzi Nader Chaparzadeh Mehrdad Asghari Estiar Mahzad Mehrzad Sadaghiani Laya Farzadi Alieh Ghasemzadeh Masoud Sakhinia Ebrahim Sakhinia

Introduction. Recurrent spontaneous abortion (RSA) is a significant obstetrical complication that may occur during pregnancy. Various studies in recent years have indicated that two common mutations (C677T and A1298C) of the methylenetetrahydrofolate reductase (MTHFR) gene are risk factor for RSA. This study was carried out to determine the influence of (C677T and A1298C) of the methylenetetrah...

Journal: :Clinical chemistry 1998
B A Giesendorf J A Vet S Tyagi E J Mensink F J Trijbels H J Blom

Molecular beacons are oligonucleotide probes that become fluorescent upon hybridization. We designed molecular beacons to detect a point mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, a mutation that has been related to an increased risk for cardiovascular disease and neural tube defects. The application of molecular beacons enables fast, semiautomated, accurate mutation dete...

Journal: :Neurology 2014
Gerarda Cappuccio Carla Cozzolino Giulia Frisso Roberta Romanelli Giancarlo Parenti Alessandra D'Amico Barbara Carotenuto Francesco Salvatore Ennio Del Giudice

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disease included in the group of homocysteine remethylation disorders. The MTHFR catalyzes the irreversible conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. Besides the well-known association of thrombophilic defects with MTHFR variants and elevated homocysteine, few patients with MTHFR...

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