Article
Intervention of somatic mutational events in vivo by a germline defect at the adenine phosphoribosyltransferase locus.
Human genetics - 1 Feb 1997
Hakoda M, Kamatani N, Kurumada S, Hirai Y, Sakamoto K, Yamanaka H, Terai C, Kashiwazaki S
Abstract excerpt
Both germline and somatic mutations are known to affect phenotypes of human cells in vivo. In previous studies, we cloned mutant peripheral blood T cells from germline heterozygous humans for adenine phosphoribosyltransferase (APRT) (EC 2.4.2.7) deficiency and found that approximately 1.3 x 10-4 peripheral T cells had undergone in vivo somatic mutations. Loss of heterozygosity (LOH) was the major cause of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.