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Article

Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2002

de Sanctis Luisa, Romagnolo Damiano, Greggio Nella, Genitori Lorenzo, Lala Roberto, de Sanctis Carlo

Abstract excerpt

McCune-Albright syndrome (MAS) is a rare disease caused by somatic postzygotic mutations at Arg201 in the GNAS1 gene that encodes for the Gsalpha protein. Arg201 mutations are gain-of-function mutations in affected tissues (including bone, skin, endocrine glands and other tissues) that result in the activation of cAMP. We used a polymerase chain reaction(PCR)-based technique for the selective enrichment and...

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Source

Identifiers

PMID: 12199346

Provenance

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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Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome.PMID 12199346Read ↗

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