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
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets.
Lin X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature.
Cheon CK et al.
Annals of Pediatric Endocrinology & Metabolism, 2014
Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.
Durmaz E et al.
Bone, 2013
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.
Gaucher C et al.
Human Genetics, 2009
Novel regulators of phosphate homeostasis and bone metabolism.
Jüppner H
Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 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
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
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
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