𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon–Lefèvre Syndrome

✍ Scribed by Jouary, Thomas; Goizet, Cyril; Coupry, Isabelle; Redonnet-Vernhet, Isabelle; Levade, Thierry; Burgelin, Ingrid; Toutain, Annick; Delaporte, Emmanuel; Douillard, Claire; Lacombe, Didier; Taieb, Alain; Arveiler, Benoît

Book ID
110050051
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
768 KB
Volume
128
Category
Article
ISSN
0022-202X

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Biochemical and mutational analyses of t
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome
✍ Y. Zhang; P.S. Hart; A.J. Moretti; O.J. Bouwsma; E.M. Fisher; L. Dudlicek; M.J. 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 186 KB

Papillon Lefèvre syndrome (PLS) is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe periodontitis. The disease is caused by mutations in the cathepsin C gene (CTSC) that maps to chromosome 11q14. CTSC gene mutations associated with PLS have been correlated with

Expanding the spectrum of TBX5 mutations
Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations
✍ Wiktor Borozdin; Ana M. Bravo Ferrer Acosta; Michael J. Bamshad; Elke M. Botzenh 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 151 KB 👁 1 views

Mutations in the gene TBX5 cause Holt-Oram syndrome (HOS), an autosomal dominant disorder characterized by anterior (i.e., radial ray) upper limb malformations and congenital heart defects and/or cardiac conduction anomalies. The detection rate for TBX5 mutations in HOS patients has been given as 30