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
✦ LIBER ✦
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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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