APC MUTATION ASSOCIATED WITH LATE-ONSET OF FAMILIAL ADENOMATOUS POLYPOSIS

Authors
SMITHRAVIN J PACK K HODGSON S TAY SKS PHILLIPS R BODMER W
Citation
J. Smithravin et al., APC MUTATION ASSOCIATED WITH LATE-ONSET OF FAMILIAL ADENOMATOUS POLYPOSIS, Journal of Medical Genetics, 31(11), 1994, pp. 888-890
Citations number
14
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
31
Issue
11
Year of publication
1994
Pages
888 - 890
Database
ISI
SICI code
0022-2593(1994)31:11<888:AMAWLO>2.0.ZU;2-O
Abstract
Familial adenomatous polyposis is an autosomal dominantly inherited di sorder. Mutation studies in the corresponding gene (APC) may provide i nformation for predictive tests for persons at risk in affected famili es. We report here a new mutation in exon 6 (codon 233) of the APC gen e and clinical data in a large family with late onset of the disease i n most affected persons.