Individuals III:1 and IV:1 from family C17 (Figure 1a) and proband B8 were screened for copy number variations (CNVs) using the HumanCytoSNP-12 v2.1 BeadChip (Illumina) with ~300 000 markers that ...
Methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. The C677T in the gene that encodes MTHFR decreases the activity of ...