Journal
CANCER GENETICS AND CYTOGENETICS
Volume 181, Issue 1, Pages 52-54Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.cancergencyto.2007.11.001
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Funding
- NCI NIH HHS [R01 CA098193-01A1, R01 CA098193] Funding Source: Medline
- PHS HHS [5R01-09813-03] Funding Source: Medline
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We describe a novel germline mutation of BMPR1A in a family with juvenile polyposis and colon cancer. This mutation consists of two consecutive substitutions (735-6 TG > AT) that cause two nonsense mutations (Y245X, G246X), inherited in an autosomal dominant fashion, on one parental chromosome. This mutation caused protein truncation, and represents a novel case of consecutive nonsense mutations in human disease. (c) 2008 Elsevier Inc. All rights reserved.
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