Article
Nonsense mutations in human transcobalamin II deficiency.
Biochemical and biophysical research communications - 15 Nov 1994
Li N, Rosenblatt D S, Seetharam B
Abstract excerpt
Reverse transcription-polymerase chain reaction has been used to amplify, clone and sequence transcobalamin II (TC II) cDNA from fibroblasts of three unrelated TC II deficient patients who had undetectable TC II protein and mRNA in their fibroblasts (Li et al., Biochem. J, 301, 585-590, 1994). One child of a consanguineous marriage contained a single nucleotide deletion at position 258 in both alleles, while the...
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