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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Autores principales: Jee, Myung Jin, Yoon, Soon Man, Kim, Eui Joong, Choi, Hyun-Jung, Kim, Jong-Won, Sung, Ro Hyun, Han, Joung Ho, Chae, Hee Bok, Park, Seon Mee, Youn, Sei Jin
Formato: Artigo
Lenguaje:Inglês
Publicado: The Korean Society of Gastroenterology; the Korean Society of Gastrointestinal Endoscopy; the Korean Association for the Study of the Liver; the Korean Society of Neurogastroenterology and Motility; Korean Association for the Study of Intestinal Diseases; Korean College of Helicobacter and Upper Gastrointestinal Research; Korean Pancreatobiliary Association; Korean Society of Gastrointestinal Cancer 2013
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3848546/
https://ncbi.nlm.nih.gov/pubmed/24312718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5009/gnl.2013.7.6.747
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