Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.
Copenhagen, Denmark. In Plos Genet, 2013
We found six novel loci associating with serum B(12) (CD320, TCN2, ABCD4, MMAA, MMACHC) or folate levels (FOLR3) and confirmed seven loci for these traits (TCN1, FUT6, FUT2, CUBN, CLYBL, MUT, MTHFR).
Disorders of Intracellular Cobalamin Metabolism
Seattle, United States. In Unknown Journal, 2008
Diagnosis is confirmed by identification of biallelic mutation in one of the following genes (associated complementation groups indicated in parentheses): MMACHC (cblC), MMADHC (cblD and cblD variant 1), MTRR (cblE), LMBRD1 (cblF), MTR (cblG), and ABCD4 (cblJ).