Article
DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia.
Gene - 23 Jan 2002
Ding Qi, Bramble Lori, Yuzbasiyan-Gurkan Vilma, Bell Thomas, Meek Katheryn
Abstract excerpt
Previously, spontaneous genetic immunodeficiencies in mice, Arabian foals, and recently in Jack Russell terriers have been ascribed to defects in DNA-PKcs (catalytic subunit of the DNA dependent protein kinase) expression. In severe combined immunodeficiency (SCID) foals, a 5 bp deletion at codon 9480 results in a frameshift and a 967 amino acid deletion from the C terminus (including the entire PI3 kinase...
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