Characterization of six novel mutations
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Sahar Sibani; Benedicte Christensen; Erin O'Ferrall; Irfan Saadi; FranΓ§ois Hiou-
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Article
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2000
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John Wiley and Sons
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English
β 257 KB
π 2 views
## Communicated by Mark Paalman Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) is the most common inborn error of folate metabolism. Patients are characterized by severe hyperhomocysteinemia, homocystinuria and a variety of neurological and vascular problems. Eighteen rare mutatio