Article
Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?
Clinical genetics - 1 Aug 2001
Martin-Denavit T, Duthel S, Giraud S, Olschwang S, Saurin J C, Plauchu H
Abstract excerpt
We report the cases of two familial adenomatous polyposis (FAP) families who presented with the same 2 base pair deletion (AG) at codon 1465 of the adenomatous polyposis coli (APC) gene, but showed phenotypic variability. The mutation was revealed by a simple nonradioactive method using a heteroduplex analysis and identified by a sequence analysis. This observation suggests the responsibility of modifier genes in...
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