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Article

Exome sequencing revealed novel germline mutations in Chinese Peutz-Jeghers syndrome patients.

Digestive diseases and sciences - 1 Jan 2014

Wang Huan-Huan, Xie Na-Na, Li Qi-Yuan, Hu Yi-Qun, Ren Jian-Lin, Guleng Bayasi

Abstract excerpt

BACKGROUND AND AIMS: Peutz-Jeghers Syndrome (PJS) is an autosomal dominant disorder which predisposes to the development of various cancers. Germline mutation in the serine/threonine kinase 11 gene (STK11) is known as one of the major causes of PJS. However, a notable proportion of PJS samples do not carry any mutation in STK11, suggesting possible genetic heterogeneity in the disease and the existence of other...

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Source

Identifiers

PMID: 24154639
DOI: 10.1007/s10620-013-2875-7

Genes

STK11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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