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Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene

✍ Scribed by P. Goyette; D. Rosenblatt; R. Rozen


Book ID
110224956
Publisher
Springer
Year
1998
Tongue
English
Weight
34 KB
Volume
21
Category
Article
ISSN
0141-8955

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## 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