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Article

Mutations in the human LKB1/STK11 gene.

Human mutation - 1 Oct 2005

Launonen Virpi

Abstract excerpt

The human LKB gene (official HUGO symbol, STK11) encodes a serine/threonine protein kinase that is defective in patients with Peutz-Jeghers syndrome (PJS). PJS is an autosomal dominantly inherited syndrome characterized by hamartomatous polyposis of the gastrointestinal tract and mucocutaneous pigmentation. To date, 145 different germline LKB1 mutations have been reported. The majority of the mutations lead to a...

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Identifiers

PMID: 16110486
DOI: 10.1002/humu.20222

Genes

STK11

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Mutations in the human LKB1/STK11 gene.PMID 16110486Read ↗

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