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Article

An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus.

Clinical genetics - 1 Nov 2006

Chow E, Meldrum C J, Crooks R, Macrae F, Spigelman A D, Scott R J

Abstract excerpt

The genetic predisposition Peutz-Jeghers Syndrome (PJS) has been shown to be associated with mutations in the serine threonine kinase 11 (STK11) gene but only a proportion of probands have been shown to harbour changes in the gene. The remaining patients were proposed to be either associated with a second PJS gene or they harboured more cryptic mutations within the STK11 gene itself. With the introduction of the...

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Source

Identifiers

PMID: 17026623
DOI: 10.1111/j.1399-0004.2006.00704.x

Genes

STK11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus.PMID 17026623Read ↗

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndromeSemantic proximity Read ↗

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High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.Semantic proximity Read ↗

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