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Article

Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families.

Clinical genetics - 1 Apr 2013

Orellana P, López-Köstner F, Heine C, Suazo C, Pinto E, Church J, Carvallo P, Alvarez K

Abstract excerpt

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous melanocytic macules, gastrointestinal hamartomatous polyposis and an increased risk of various neoplasms. Germline mutations in the serine/threonine kinase 11 (STK11) gene have been identified as a cause for PJS. The aim of this study was to characterize the genotype of Chilean PJS patients. Mutation screening of 13...

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Source

Identifiers

PMID: 22775437
DOI: 10.1111/j.1399-0004.2012.01928.x

Genes

STK11

Provenance

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