Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. [electronic resource]
Producer: 20120313Description: 590-2 p. digitalISSN:- 1468-6244
- Amino Acid Metabolism, Inborn Errors -- genetics
- Anemia, Megaloblastic -- genetics
- Exome
- Female
- Folic Acid -- genetics
- Humans
- Hyperhomocysteinemia -- genetics
- Infant
- Metabolism, Inborn Errors -- genetics
- Methylenetetrahydrofolate Dehydrogenase (NADP) -- genetics
- Minor Histocompatibility Antigens
- Mutation
- Severe Combined Immunodeficiency -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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