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Genotype-phenotype correlation in APC familial and new mutation cases

✍ Scribed by Simon A. Gayther; Dagan Wells; Sioban B. SenGupta; Katia Tsioupra; Joy D.A. Delhanty

Book ID
119106297
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
99 KB
Volume
77
Category
Article
ISSN
0165-4608

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Genotype-phenotype correlation between p
Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis
✍ Yvonne L. Wallis; Fiona Macdonald; Maj HultΓ©n; Jenny E. V. Morton; Carol M. McKe πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 668 KB

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