Exceptions to the rule: individuals with FAP specific CHRPE and mutations in exon 6 of the APC gene
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1996.tb02361.x/fullpdf
Reference17 articles.
1. Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis;Baker;Am J Med Genet,1988
2. Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis;Berk;Dis Colon Rectum,1988
3. Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome;Blair;Am J Ophthalmol,1980
4. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444;Caspari;Hum Mol Genet,1995
5. Reactivity of cytosine and thymidine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations;Cotton;Proc Natl Acad Sci USA,1988
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1. Genetic Testing for Familial Adenomatous Polyposis;Annals of the New York Academy of Sciences;2006-01-25
2. Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients;Hereditary Cancer in Clinical Practice;2005-09-15
3. Differential occurrence of mutations causative of eye diseases in the Chinese population;Human Mutation;2002-02-13
4. Congenital hypertrophy of the retinal pigment epithelium and APC mutations in two Chinese families with familial adenomatous polyposis;Eye;2000-01
5. Fundus lesions of adenomatous polyposis;Current Opinion in Opthalmology;1999-06
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