Article
Two novel single-nucleotide polymorphisms of the Caspase-9 (CASP9) gene in the Japanese population.
Genes and immunity - 1 Apr 2001
Hirano A, Nagai H, Harada H, Haga S, Kajiwara T, Emi M
Abstract excerpt
We identified two single-nucleotide polymorphisms (SNPs) in the human Caspase-9 (CASP9) gene (1p36.3), which encodes an apoptosis-related cysteine protease, by screening all exons and exon-intron boundaries. These SNPs were present in coding regions. One of coding SNPs reflected an amino-acid substitution; an A to G transition at codon 221 in exon 5 would encode arginine instead of glutamine. As the gene is...
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