Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?

Autor:	S Duthel, S Olschwang, S Giraud, JC Saurin, T Martin-Denavit, Henri Plauchu
Rok vydání:	2001
Předmět:	Genetics Mutation biology Adenomatous polyposis coli medicine.disease medicine.disease_cause Phenotype Familial adenomatous polyposis Germline mutation Gardner Syndrome medicine biology.protein Gene Genetics (clinical) Heteroduplex
Zdroj:	Clinical Genetics. 60:125-131
ISSN:	0009-9163
DOI:	10.1034/j.1399-0004.2001.600206.x
Popis:	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 FAP patients' phenotype.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::88dcfacab690f7b42e8dce0e0cf0fddf https://doi.org/10.1034/j.1399-0004.2001.600206.x Zobrazit plný text záznamu Plný text