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Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis



Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis



Journal of Medical Genetics 32(9): 728-731



Nine new causative mutations and seven previously characterised mutations of the APC gene of patients with familial adenomatous polyposis (FAP) were analysed for any genotype-phenotype correlations. The only clear genotype-phenotype correlation found was between the position of the mutation site and the presence or absence of congenital hypertrophy of the retinal pigment epithelium (CHRPE). A more distal mutation site was associated with an earlier age of onset of symptoms and a larger number of colonic polyps, but a notable amount of intrafamilial variation was observed.

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Accession: 008733022

Download citation: RISBibTeXText

PMID: 8544194

DOI: 10.1136/jmg.32.9.728


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