Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis

Mutations in the adenomatous polyposis coli (APC) gene are responsible for the disease familial adenomatous polyposis (FAP), a dominantly inherited predisposition to colorectal cancer. The most common extra-colonic manifestation is congenital hypertrophy of the retinal pigment epithelium (CHRPE), ex...

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Veröffentlicht in:	Human genetics 1994-11, Vol.94 (5), p.543-548
Hauptverfasser:	Wallis, Y L, Macdonald, F, Hultén, M, Morton, J E, McKeown, C M, Neoptolemos, J P, Keighley, M, Morton, D G
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenomatous Polyposis Coli - genetics Codon, Terminator DNA Mutational Analysis Electrophoresis, Polyacrylamide Gel Exons - genetics Genes, APC Genotype Humans Hypertrophy Mutation - genetics Mutation - physiology Phenotype Pigment Epithelium of Eye - pathology
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