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
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