Associated Papers
Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.
Liu Y et al.
Journal of Human Genetics, 2019
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.
Fettelschoss V et al.
The Journal of Biological Chemistry, 2017
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