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(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families

✍ Scribed by M. Rodríguez; C. Camejo; B. Bertoni; C. Braida; M.M. Rodríguez; B. Brais; M. Medici; L. Roche


Book ID
116792266
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
123 KB
Volume
15
Category
Article
ISSN
0960-8966

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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 19p