TY  - GEN
AU  - Watkins,David
AU  - Schwartzentruber,Jeremy A
AU  - Ganesh,Jaya
AU  - Orange,Jordan S
AU  - Kaplan,Bernard S
AU  - Nunez,Laura Dempsey
AU  - Majewski,Jacek
AU  - Rosenblatt,David S
TI  - Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
SN  - 1468-6244
PY  - 2012///0313
KW  - Amino Acid Metabolism, Inborn Errors
KW  - genetics
KW  - Anemia, Megaloblastic
KW  - Exome
KW  - Female
KW  - Folic Acid
KW  - Humans
KW  - Hyperhomocysteinemia
KW  - Infant
KW  - Metabolism, Inborn Errors
KW  - Methylenetetrahydrofolate Dehydrogenase (NADP)
KW  - Minor Histocompatibility Antigens
KW  - Mutation
KW  - Severe Combined Immunodeficiency
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmedgenet-2011-100286
ER  -