Article
Allele-specific expression of APC in adenomatous polyposis families.
Gastroenterology - 1 Aug 2010
Castellsagué Ester, González Sara, Guinó Elisabet, Stevens Kristen N, Borràs Ester, Raymond Victoria M, Lázaro Conxi, Blanco Ignacio, Gruber Stephen B, Capellá Gabriel
Abstract excerpt
BACKGROUND & AIMS: Germline mutations in the APC gene cause of most cases of familial adenomatous polyposis (FAP) and a lesser proportion of attenuated FAP (AFAP). Systematic analysis of APC at the RNA level could provide insight into the pathogenicity of identified mutations and the molecular basis of FAP/AFAP in families without identifiable mutations. Here, we analyzed the prevalence of imbalances in the...
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