✦ LIBER ✦

Breakpoint determination of 15 large deletions in Peutz–Jeghers subjects

✍ Scribed by Nicoletta Resta; Roberto Giorda; Rosanna Bagnulo; Silvana Beri; Erika Della Mina; Alessandro Stella; Marilidia Piglionica; Francesco Claudio Susca; Ginevra Guanti; Orsetta Zuffardi; Roberto Ciccone

Book ID: 106135020
Publisher: Springer
Year: 2010
Tongue: English
Weight: 466 KB
Volume: 128
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-010-0859-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

High proportion of large genomic STK11 d

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

✍ Stefan Aretz; Dietlinde Stienen; Siegfried Uhlhaas; Steffan Loff; Walter Back; C 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 235 KB 👁 1 views

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