Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy.

doi:10.1515/jpem.2006.19.s2.647

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Article

Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2006

Ahrens Wiebke, Hiort Olaf

Abstract excerpt

Albright's hereditary osteodystrophy (AHO) is a heterogeneous clinical entity in part associated with pseudohypoparathyroidism (PHP) and other endocrinopathies. It may be caused by diminished Gs alpha protein activity. Heterozygous mutations in the underlying GNAS gene on chromosome 20 have been described. One hundred and six patients with suspected AHO, were investigated, of whom 93 showed a laboratory profile...

Topics

Adolescent
Adult
DNA
Female
Fibrous Dysplasia, Polyostotic
GTP-Binding Protein alpha Subunits, Gs
Genetic Testing
Humans
Male
Mutation
Pedigree
Pseudohypoparathyroidism

Source

Open in PubMed

Identifiers

PMID: 16789630
DOI: 10.1515/jpem.2006.19.s2.647

Genes

GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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