Associated Papers
Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.
Wu H et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
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
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets.
Lin X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 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
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
The wrickkened pathways of FGF23, MEPE and PHEX.
Rowe PS
Critical Reviews in Oral Biology and Medicine : an Official Publication of the American Association of Oral Biologists, 2004
Structure and function of disease-causing missense mutations in the PHEX gene.
Sabbagh Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Novel phosphate-regulating genes in the pathogenesis of renal phosphate wasting disorders.
Tenenhouse HS et al.
Pflugers Archiv : European Journal of Physiology, 2002
Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets.
Holm IA et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein.
Sabbagh Y et al.
Human Molecular Genetics, 2001