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Article

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

American journal of human genetics - 1 Apr 1997

Holm I A, Huang X, Kunkel L M

Abstract excerpt

X-linked hypophosphatemic rickets (HYP) is a dominant disorder characterized by renal phosphate wasting and abnormal vitamin D metabolism. PEX, the gene that is defective in HYP and is located on Xp22.1, is homologous to members of the neutral endopeptidase family. However, the complete coding sequence of the PEX cDNA, the structure of the PEX gene, and the role that PEX plays in phosphate transport remain...

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Identifiers

PMID: 9106524
PMCID: PMC1712471

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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