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Article

Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

Journal of medical genetics - 1 Nov 1994

Wilson L C, Oude Luttikhuis M E, Clayton P T, Fraser W D, Trembath R C

Abstract excerpt

Heterozygous mutations of the Gs alpha gene leading to reduced Gs alpha activity have been identified in patients with Albright's hereditary osteodystrophy (AHO). However, AHO may be associated with hormone resistance (pseudohypoparathyroidism type Ia, PHPIa) or a normal response (pseudo-pseudohy...

Topics

Adult
Base Sequence
Child
DNA
Exons
Female
Fibrous Dysplasia, Polyostotic
GTP-Binding Proteins
Humans
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Genetic

Pseudohypoparathyroidism

Source

Open in PubMed Open full text

Identifiers

PMID: 7853365
DOI: 10.1136/jmg.31.11.835
PMCID: PMC1016654

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7853365-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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