Article
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.
Nature genetics - 1 Feb 2002
Al-Tassan Nada, Chmiel Nikolas H, Maynard Julie, Fleming Nick, Livingston Alison L, Williams Geraint T, Hodges Angela K, Davies D Rhodri, David Sheila S, Sampson Julian R, Cheadle Jeremy P
Abstract excerpt
Inherited defects of base excision repair have not been associated with any human genetic disorder, although mutations of the genes mutM and mutY, which function in Escherichia coli base excision repair, lead to increased transversions of G:C to T:A. We have studied family N, which is affected with multiple colorectal adenomas and carcinoma but lacks an inherited mutation of the adenomatous polyposis coli gene...
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