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Article

A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome.

Nucleic acids research - 19 Apr 2004

Karadag Abdullah, Riminucci Mara, Bianco Paolo, Cherman Natasha, Kuznetsov Sergei A, Nguyen Nga, Collins Michael T, Robey Pamela G, Fisher Larry W

Abstract excerpt

Somatic mutations are present in various proportions in numerous developmental pathologies. Somatic activating missense mutations of the GNAS gene encoding the Gs(alpha) protein have previously been shown to be the cause of fibrous dysplasia of bone (FD)/McCune-Albright syndrome (MAS). Because in MAS patients, tissues as diverse as melanocytes, gonads and bone are affected, it is generally accepted that the GNAS...

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Source

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Identifiers

PMID: 15096559
DOI: 10.1093/nar/gnh059
PMCID: PMC407839

Genes

GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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