𝔖 Bobbio Scriptorium
✦   LIBER   ✦

One Novel Deletion and One Splicing Mutation of the LKB1 Gene in Two Chinese Patients with Peutz–Jeghers Syndrome

✍ Scribed by Chen, Chunyan; Zhang, Xiaomei; Wang, Fangyu; Liu, Chang; Lu, Heng; Wan, Haijun; Wei, Juan; Liu, Jiong


Book ID
120339614
Publisher
Mary Ann Liebert
Year
2012
Tongue
English
Weight
422 KB
Volume
31
Category
Article
ISSN
1044-5498

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutation screening at the RNA level of t
✍ Abdalla A. Abed; Klaus Günther; Cornelia Kraus; Werner Hohenberger; Wolfgang G. 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 606 KB

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

Acute intermittent porphyria: Characteri
✍ Adriana De Siervi; Manuel Mendez; Victoria Estela Parera; Laura Varela; Alcira M 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 24 KB 👁 1 views

A partial deficiency of Porphobilinogen deaminase (PBG-D) is responsible for acute intermittent porphyria (AIP). AIP is inherited in an autosomal dominant fashion, and the prevalence in the Argentinean population is about 1:125,000. Here, two new mutations and three previously reported were found in