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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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: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2013
Materias:
Technical Advance
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3681719/
https://ncbi.nlm.nih.gov/pubmed/23718779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-58
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