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Article

Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.

PloS one - 1 Jan 2013

Narumi Satoshi, Matsuo Kumihiro, Ishii Tomohiro, Tanahashi Yusuke, Hasegawa Tomonobu

Abstract excerpt

Somatic activating GNAS mutations cause McCune-Albright syndrome (MAS). Owing to low mutation abundance, mutant-specific enrichment procedures, such as the peptide nucleic acid (PNA) method, are required to detect mutations in peripheral blood. Next generation sequencing (NGS) can analyze millions of PCR amplicons independently, thus it is expected to detect low-abundance GNAS mutations quantitatively. In the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP-Binding Protein alpha Subunits, Gs

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Source

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Identifiers

PMID: 23536913
DOI: 10.1371/journal.pone.0060525
PMCID: PMC3607597

Genes

GNAS

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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