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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Detalles Bibliográficos
Autores principales: Borun, Pawel, De Rosa, Marina, Nedoszytko, Boguslaw, Walkowiak, Jaroslaw, Plawski, Andrzej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559094/
https://www.ncbi.nlm.nih.gov/pubmed/25841653
http://dx.doi.org/10.1007/s10689-015-9800-5

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