Functional analysis of a de novo mutation c.1692 del A of the PHEX gene in a Chinese family with X-linked hypophosphataemic rickets.
Huang J, Bao X, Xia W, Zhu L, Zhang J, Ma J, Jiang N, Yang J, Chen Q, Jing T, Liu J, Ma D, Xu G.
Huang J, et al. Among authors: bao x.
Bone Joint Res. 2019 Sep 3;8(8):405-413. doi: 10.1302/2046-3758.88.BJR-2018-0276.R1. eCollection 2019 Aug.
Bone Joint Res. 2019.
PMID: 31537998
Free PMC article.
OBJECTIVES: X-linked hypophosphataemic rickets (XLHR) is a disease of impaired bone mineralization characterized by hypophosphataemia caused by renal phosphate wasting. ...CONCLUSION: We have found a de novo loss-of-function mutation, c.1692 del A, in exon 16 of the PHEX g …
OBJECTIVES: X-linked hypophosphataemic rickets (XLHR) is a disease of impaired bone mineralization characterized by hypophosphataemia …