✦ LIBER ✦

Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene

✍ Scribed by Varda Levy-Litan; Eli Hershkovitz; Luba Avizov; Neta Leventhal; Dani Bercovich; Vered Chalifa-Caspi; Esther Manor; Sophia Buriakovsky; Yair Hadad; James Goding; Ruti Parvari

Book ID: 113422771
Publisher: American Society of Human Genetics
Year: 2010
Tongue: English
Weight: 882 KB
Volume: 86
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2010.01.010

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel nonsense mutation in theDMP1gene

A novel nonsense mutation in theDMP1gene in a Japanese family with autosomal recessive hypophosphatemic rickets

✍ Ryusuke Koshida; Hideki Yamaguchi; Koji Yamasaki; Wakaba Tsuchimochi; Tadato Yon 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 292 KB

The p.R176Q mutation in FGF-23 gene is f

The p.R176Q mutation in FGF-23 gene is firstly found in a Chinese family with autosomal dominant hypophosphatemic rickets

✍ W. Xia; Y. Sun; O. Wang; M. Li; Y. Jiang; X. Xing; X. Meng; X. Zhou 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 54 KB

Mutations in the DJ-1 Gene Associated wi

Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

✍ Bonifati, V. 📂 Article 📅 2002 🏛 American Association for the Advancement of Scienc 🌐 English ⚖ 410 KB

A novel mutation in the GDAP1 gene is as

A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot–Marie–Tooth disease in an Amish family

✍ B Xin; E Puffenberger; L Nye; M Wiznitzer; H Wang 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 252 KB

A donor splice site mutation in the para

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

✍ Parkinson, David B.; Thakker, Rajesh V. 📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 677 KB

A Missense Mutation in the CASQ2 Gene Is

A Missense Mutation in the CASQ2 Gene Is Associated with Autosomal-Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia

✍ Michael Eldar; Elon Pras; Hadas Lahat 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 780 KB