PT  - JOURNAL ARTICLE
AU  - D J Bunyan
AU  - J Shea-Simonds
AU  - A C Reck
AU  - D Finnis
AU  - D M Eccles
TI  - Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.
AID  - 10.1136/jmg.32.9.728
DP  - 1995 Sep 01
TA  - Journal of Medical Genetics
PG  - 728--731
VI  - 32
IP  - 9
4099  - http://jmg.bmj.com/content/32/9/728.short
4100  - http://jmg.bmj.com/content/32/9/728.full
SO  - J Med Genet1995 Sep 01; 32
AB  - 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.