✦ LIBER ✦

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

✍ Scribed by Econs, Michael J.; Strom, Tim M.; White, Kenneth E.; Evans, Wayne E.; O'Riordan, Jeffery L.H.; Speer, Marcy C.; Lorenz-Depiereux, Bettina; Grabowski, Monika; Meitinger, Thomas

Book ID: 109829440
Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 303 KB
Volume: 26
Category: Article
ISSN: 1061-4036
DOI: 10.1038/81664

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Hyperaminoaciduria and resolving phospha

Hyperaminoaciduria and resolving phosphaturia in a family with autosomal dominant hypophosphataemic rickets (ADHR) due to a mutation in the FGF23 gene

✍ J.K. Köhle; K. Kapelari; D. Kotzot; T.M. Strom; L.B. Zimmerhackl; W. Högler 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 153 KB

FGF23 analysis of a Chinese family with

FGF23 analysis of a Chinese family with autosomal dominant hypophosphatemic rickets

✍ Yue Sun; Ou Wang; Weibo Xia; Yan Jiang; Mei Li; Xiaoping Xing; Yingying Hu; Huai 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 331 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

FGF23 is elevated in Gambian children wi

FGF23 is elevated in Gambian children with rickets

✍ Ann Prentice; Mustapha Ceesay; Shailja Nigdikar; Stephen J. Allen; John M. Petti 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 334 KB

A mutation in NRL is associated with aut

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

✍ Swaroop, Anand; Bhattacharya, Shomi S.; Bessant, David A.R.; Payne, Annette M.; 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 137 KB

Autosomal-Recessive Hypophosphatemic Ric

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

✍ Varda Levy-Litan; Eli Hershkovitz; Luba Avizov; Neta Leventhal; Dani Bercovich; 📂 Article 📅 2010 🏛 American Society of Human Genetics 🌐 English ⚖ 882 KB