Article
Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.
Human mutation - 1 Jan 1999
Westerman A M, Entius M M, Boor P P, Koole R, de Baar E, Offerhaus G J, Lubinski J, Lindhout D, Halley D J, de Rooij F W, Wilson J H
Abstract excerpt
The Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder in which gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and a predisposition for developing cancer are transmitted in an autosomal dominant fashion. The recently identified LKB1/STK11 gene located at chromosome 19p13.3 is mutated in a number of PJS pedigrees. We performed mutation analysis in 19, predominantly Dutch, PJS...
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