Associated Papers
Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).
Sarafrazi S et al.
Human Mutation, 2022
A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese family.
Li B et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia.
Goljanek-Whysall K et al.
Bone, 2018
[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].
Ran Q et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017
PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets.
Mumm S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.
Zou M et al.
Endocrine, 2011
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.
Gaucher C et al.
Human Genetics, 2009
Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.
Xia W et al.
Calcified Tissue International, 2007
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
Lo FS et al.
Nephron. Physiology, 2006
Structure and function of disease-causing missense mutations in the PHEX gene.
Sabbagh Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
Sato K et al.
Pediatric Research, 2000
Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.
Filisetti D et al.
European Journal of Human Genetics : Ejhg, 1999
Mutational analysis of PHEX gene in X-linked hypophosphatemia.
Dixon PH et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
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