in plasma) and affects folate metabolism.
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The mutation of the MTHFR gene is transmitted in an autosomal recessive manner and is responsible for a reduction in the activity of the enzyme for which it encodes. This phenomenon has been identified as a risk factor for the development of thrombosis, coronary heart disease, miscarriages and defects in the neural tube.
MTHFR mutation analysis is performed from a blood sample.
of folic acid.
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