Article
Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis.
European journal of human genetics : EJHG - 1 Sept 1999
De Rosa M, Scarano M I, Panariello L, Carlomagno N, Rossi G B, Tempesta A, Borgheresi P, Renda A, Izzo P
Abstract excerpt
We describe three unrelated kindreds, affected by familial adenomatous polyposis (FAP), with 5q submicroscopic deletions that encompass the entire adenomatous polyposis coli (APC) gene and the adjacent DP1 gene. In one family the deletion encompasses also the MCC (mutated in colon cancer) gene. Affected members of these families had dysplastic adenomatous polyps and congenital hypertrophy of the retinal pigment...
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