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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: The American Society of Human Genetics 2002
विषय:
Report
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC447611/
https://ncbi.nlm.nih.gov/pubmed/11920286
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