Article
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.
Human mutation - 1 Dec 2005
Aretz Stefan, Stienen Dietlinde, Uhlhaas Siegfried, Loff Steffan, Back Walter, Pagenstecher Constanze, McLeod D Ross, Graham Gail E, Mangold Elisabeth, Santer René, Propping Peter, Friedl Waltraut
Abstract excerpt
Germline mutations in the STK11 gene have been identified in 10-70% of patients with Peutz-Jeghers syndrome (PJS), an autosomal-dominant hamartomatous polyposis syndrome. A second locus was assumed in a large proportion of PJS patients. To date, STK11 alterations comprise mainly point mutations; only a small number of large deletions have been reported. We performed a mutation analysis for the STK11 gene in 71...
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