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Alu-Mediated Genomic Deletion of the Serine/Threonine Protein Kinase 11 (STK11) Gene in Peutz–Jeghers Syndrome

✍ Scribed by Marina De Rosa; Martina Galatola; Lucia Quaglietta; Erasmo Miele; Giovanni De Palma; Giovanni Battista Rossi; Annamaria Staiano; Paola Izzo


Book ID
119761483
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
297 KB
Volume
138
Category
Article
ISSN
0016-5085

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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; onl

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This study was intended to evaluate a diagnostic reverse transcriptase polymerase chain reaction based protein-truncation test for the identification of germline mutations in the serine/threonine protein kinase 11 (STK11, also designated LKB1) gene in Peutz-Jeghers syndrome (PJS). Our data exemplify