Article
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Human mutation - 1 Jun 2015
Burda Patricie, Schäfer Alexandra, Suormala Terttu, Rummel Till, Bürer Céline, Heuberger Dorothea, Frapolli Michele, Giunta Cecilia, Sokolová Jitka, Vlášková Hana, Kožich Viktor, Koch Hans Georg, Fowler Brian, Froese D Sean, Baumgartner Matthias R
Abstract excerpt
5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common inherited disorder of folate metabolism and causes severe hyperhomocysteinaemia. To better understand the relationship between mutation and function, we performed molecular genetic analysis of 76 MTHFR deficient patients, followed by extensive enzymatic characterization of fibroblasts from 72 of these. A deleterious mutation was...
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