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

Content Provider	Semantic Scholar
Author	Bunyan, David Shea-Simonds, J. Reck, Anne C. Finnis, Derek Eccles, Diana M.
Copyright Year	1995
Abstract	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.
File Format	PDF HTM / HTML
DOI	10.1136/jmg.32.9.728
Alternate Webpage(s)	http://jmg.bmj.com/content/jmedgenet/32/9/728.full.pdf
PubMed reference number	8544194
Alternate Webpage(s)	https://doi.org/10.1136/jmg.32.9.728
Journal	Medline
Volume Number	32
Issue Number	9
Journal	Journal of medical genetics
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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