Identification of two mutant alleles of transcobalamin II in an affected family.

doi:10.1093/hmg/3.10.1835

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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...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Blotting, Southern
Cells, Cultured
Child
DNA
DNA Primers
Female
Fibroblasts
Frameshift Mutation
Gene Deletion
Genes, Recessive
Humans
Infant
Male
Molecular Sequence Data
Polymerase Chain Reaction

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