Article
Analysis of masked mutations in familial adenomatous polyposis.
Proceedings of the National Academy of Sciences of the United States of America - 2 Mar 1999
Laken S J, Papadopoulos N, Petersen G M, Gruber S B, Hamilton S R, Giardiello F M, Brensinger J D, Vogelstein B, Kinzler K W
Abstract excerpt
Familial adenomatous polyposis (FAP) is an autosomal-dominant disease characterized by the development of hundreds of adenomatous polyps of the colorectum. Approximately 80% of FAP patients can be shown to have truncating mutations of the APC gene. To determine the cause of FAP in the other 20% of patients, MAMA (monoallelic mutation analysis) was used to independently examine the status of each of the two APC...
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