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Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia1

1 Oct 1998

Abstract excerpt

Hypophosphatemic rickets is commonly an X-linked dominant disorder (XLH or HYP) associated with a renal tubular defect in phosphate transport and bone deformities. The XLH gene, referred to as PHEX, or formerly as PEX (phosphate regulating gene with homologies to endopeptidases on the X-chromosome), encodes a 749-amino acid protein that putatively consists of an intracellular, transmembrane, and extracellular...

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Identifiers

PMID: 9768674
DOI: 10.1210/jcem.83.10.5180

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia1PMID 9768674Read ↗

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Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.Semantic proximity Read ↗

A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes.Semantic proximity Read ↗

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