Article
A De Novo mutation of STK11 gene in a Chinese patient with Peutz-Jeghers syndrome.
Digestive diseases and sciences - 1 Apr 2010
Gao Ying, Zhang Fa-Ming, Huang Shu, Wang Xiang, Zhang Ping, Huang Xiao-Dan, Ji Guo-Zhong, Fan Zhi-Ning
Abstract excerpt
Peutz-Jeghers syndrome (PJS) is an autosomal-dominant inherited disorder characterized by mucocutaneous pigmentation, hamartomatous polyposis of the gastrointestinal tract, and an increased risk for the development of both gastrointestinal and extraintestinal malignancies. Germline mutation of the STK11 gene, which encodes a serine-threonine kinase, is responsible for PJS. We collected blood samples from a...
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