Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets-Reference-Cited by-同舟云学术

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Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets

Published:2012-07 Issue:4 Volume:423 Page:793-798
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Kang Qing-lin,Xu Jia,Zhang Zeng,He Jin-wei,Lu Lian-song,Fu Wen-zhen,Zhang Zhen-lin

Funder

National Natural Science Foundation

Program of the Shanghai Subject Chief Scientist

STCSM

Academic Leaders in Health Sciences

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference32 articles.

1. X-linked hypophosphatemia. Genetic and clinical correlates;Hanna;Am. J. Dis. Child.,1991

2. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets;Holm;J. Clin. Endocrinol. Metab.,2001

3. The molecular background to hypophosphatemic rickets;Rowe;Arch. Dis. Child.,2000

4. Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets;Francis;Genome Res.,1997

5. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders;McKusick,1994

Cited by 11 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. Identification of six novel variants from nine Chinese families with hypophosphatemic rickets;BMC Medical Genomics;2022-07-16

3. Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia;Frontiers in Cell and Developmental Biology;2021-06-01

4. Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation;Journal of Pediatric Endocrinology and Metabolism;2020-02-25

5. Targeted resequencing of phosphorus metabolism‑related genes in 86 patients with hypophosphatemic rickets/osteomalacia;International Journal of Molecular Medicine;2018-06-13

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