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A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?

Abstract:

BACKGROUND AND AIM: Familial juvenile polyposis syndrome (JPS) is a rare autosomal dominant condition in which patients develop hamartomatous gastrointestinal polyps with malignant potential. Pathogenic germline mutations in both the SMAD4 and BMPR1A genes involved in the transforming growth factor beta pathway account for 40% of cases of JPS. Genetic heterogeneity remains evident, as the balance of cases is not accounted for by mutations in these genes. The aim of this study was to determin...

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Publication status:
Published

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Authors


Carvajal-Carmona, LG More by this author
Bhathal, P More by this author
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Publisher:
Blackwell Publishing
Journal:
Journal of gastroenterology and hepatology
Volume:
22
Issue:
12
Pages:
2292-2297
Publication date:
2007-12-05
DOI:
EISSN:
1440-1746
ISSN:
0815-9319
URN:
uuid:2cc462ec-b85e-4837-acf2-1330a9ac98be
Source identifiers:
72061
Local pid:
pubs:72061

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