Article
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.
BMC medical genetics - 30 May 2013
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
Abstract excerpt
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 been estimated to range from 1:200 000 even up to 1:50 000 births. Being an autosomal disease, PJS is caused in most...
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