Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference12 articles.
1. X-linked hypophosphatemia and growth;Fuente;Rev Endocr Metab Disord,2017
2. The gene for X-linked hypophosphataemic rickets maps to a 200–300 kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE);Rowe;Hum Genet,1996
3. Mammalian membrane metallopeptidases: NEP, ECE, KELL, and PEX;Turner;FASEB J,1997
4. Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers;Ruchon;Bone Miner Res,2000
5. Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia;Yamazaki;Clin Endocrinol Metab,2002
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care;JBMR Plus;2023-05
2. Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription;Cell Death & Disease;2022-06-02
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