Article
Identification of two mutant alleles of transcobalamin II in an affected family.
Human molecular genetics - 1 Oct 1994
Li N, Rosenblatt D S, Kamen B A, Seetharam S, Seetharam B
Abstract excerpt
Transcobalamin II (TC II) deficiency is a rare autosomal recessive disease leading to cobalamin (Cbl; Vitamin B12) deficiency characterized by failure to thrive, megaloblastic anemia, impaired immunodefence and neurological manifestations. By means of Southern blotting and sequence analysis of TC II cDNA amplified from fibroblasts of an affected child and his parents, we have identified two mutant TC II alleles,...
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