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High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome

BACKGROUND: 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. Depending on the studied population, its incidence has be...

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Detalles Bibliográficos
Autores principales: Borun, Pawel, Bartkowiak, Anna, Banasiewicz, Tomasz, Nedoszytko, Boguslaw, Nowakowska, Dorota, Teisseyre, Mikolaj, Limon, Janusz, Lubinski, Jan, Kubaszewski, Lukasz, Walkowiak, Jaroslaw, Czkwianianc, Elzbieta, Siolek, Monika, Kedzia, Agnieszka, Krokowicz, Piotr, Cichy, Wojciech, Plawski, Andrzej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681719/
https://www.ncbi.nlm.nih.gov/pubmed/23718779
http://dx.doi.org/10.1186/1471-2350-14-58

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