A Novel Germline Mutation in Exon 10 of the SMAD4 Gene in a Familial Juvenile Polyposis

Familial juvenile polyposis (FJP) is a rare autosomal dominant hereditary disorder that is characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of cancer. Recently, germline mutations, including mutations in the SMAD4, BMPR1A, PTEN...

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Bibliografski detalji
Format: Članak
Jezik:English
Izdano: Gastroenterology Council for Gut and Liver 2013-11-01
Serija:Gut and Liver
Teme:
Online pristup:http://gutnliver.org/journal/view.html?doi=10.5009/gnl.2013.7.6.747