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
34806794 (PubMed )
Supplement: HUMU-43-143-s001.xlsx › Table_S1-_870_PHEX_variants
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.
Gaucher C et al.
Human Genetics, 2009
Structure and function of disease-causing missense mutations in the PHEX gene.
Sabbagh Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein.
Sabbagh Y et al.
Human Molecular Genetics, 2001
Characterization of PHEX endopeptidase catalytic activity: identification of parathyroid-hormone-related peptide107-139 as a substrate and osteocalcin, PPi and phosphate as inhibitors.
Boileau G et al.
The Biochemical Journal, 2001
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