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Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz–Jeghers syndrome

Peutz–Jeghers syndrome (PJS) is a rare hereditary syndrome characterized by the occurrence of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of cancer in multiple internal organs. PJS is preconditioned by the manifestation of mutations in the STK11...

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發表在:Fam Cancer
Main Authors: Borun, Pawel, De Rosa, Marina, Nedoszytko, Boguslaw, Walkowiak, Jaroslaw, Plawski, Andrzej
格式: Artigo
語言:Inglês
出版: Springer Netherlands 2015
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4559094/
https://ncbi.nlm.nih.gov/pubmed/25841653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10689-015-9800-5
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