Common Deletion of SMAD4 in Juvenile Polyposis Is a Mutational Hotspot

Juvenile polyposis (JP) is an autosomal dominant syndrome in which affected patients develop upper- and/or lower-gastrointestinal (GI) polyps. A subset of families with JP have germline mutations in the SMAD4 (MADH4) gene and are at increased risk of GI cancers. To date, six families with JP have be...

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Main Authors: Howe, James R., Shellnut, Jason, Wagner, Brian, Ringold, John C., Sayed, Mohamed G., Ahmed, Abul F., Lynch, Patrick M., Amos, Christopher I., Sistonen, Pertti, Aaltonen, Lauri A.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC447611/
https://ncbi.nlm.nih.gov/pubmed/11920286
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