Publications:

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).

Human Mutation

Quadros, Edward V EV; Lai, Shao-Chiang SC; Nakayama, Yasumi Y; Sequeira, Jeffrey M JM; Hannibal, Luciana L; Wang, Sihe S; Jacobsen, Donald W DW; Fedosov, Sergey S; Wright, Erica E; Gallagher, Renata C RC; Anastasio, Natascia N; Watkins, David D; Rosenblatt, David S DS

Publication Date: 2010-08

Variant appearance in text: LDLR: S142G

PubMed Link: 20524213

Variant Present in the following documents:

• Main text

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