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Article

Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein.

Human molecular genetics - 15 Jul 2001

Sabbagh Y, Boileau G, DesGroseillers L, Tenenhouse H S

Abstract excerpt

PHEX is homologous to the M13 zinc metallopeptidases, a class of type II membrane glycoproteins. Although more than 140 mutations in the PHEX gene have been identified in patients with X-linked hypophosphatemia (XLH), the most prevalent form of inherited rickets, the molecular consequences of dis...

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Source

Identifiers

PMID: 11468271
DOI: 10.1093/hmg/10.15.1539

Genes

PHEX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11468271-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein.PMID 11468271Read ↗

Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation.Semantic proximity Read ↗

Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.Semantic proximity Read ↗

Identification of a Novel Pathogenic Variant in the PHEX Gene and Its Mechanistic Implications in X-Linked HypophosphatemiaSemantic proximity Read ↗

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Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.Semantic proximity Read ↗

Novel PHEX mutation associated with hypophosphatemic rickets.Semantic proximity Read ↗

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