RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing events.

Abstract excerpt

5,10-Methylenetetrahydrofolate reductase (MTHFR, MIM #607093) is a key enzyme in the folate cycle that catalyzes the conversion of 5,10-methylenetetrahydrofolate (5,10-MTHF) to 5-methyltetrahydrofolate (5-methylTHF), a critical step for the remethylation of homocysteine to methionine. Methylenetetrahydrofolate reductase deficiency is an autosomal recessive disease and the most common congenital defect in folate...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Exome Sequencing
• Share to Homocysteine