Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

Watkins, David

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. [electronic resource] - Journal of medical genetics Sep 2011 - 590-2 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmedgenet-2011-100286 doi


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