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Article

Novel and recurrent mutations of STK11 gene in six Chinese cases with Peutz-Jeghers syndrome.

Digestive diseases and sciences - 1 Aug 2014

Dai Limeng, Fu Liyuan, Liu Dan, Zhang Kun, Wu Yuanyuan, Meng Hui, Zhang Bo, Guan Xingying, Guo Hong, Bai Yun

Abstract excerpt

BACKGROUND: The serine/threonine kinase 11 (STK11) gene is the main causal gene in Peutz-Jeghers syndrome (PJS). Abnormal STK11 may increase cancer risk of PJS patients via affecting its target proteins such as P53, AMPK, and PTEN. In this study, we investigated the molecular basis of six Chinese PJS patients. MATERIALS AND METHODS: Blood samples were collected from four Chinese PJS families and two sporadic...

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Identifiers

PMID: 24604241
DOI: 10.1007/s10620-014-3077-7

Genes

STK11
PTEN

Variants

Provenance

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