Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing

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 o...

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Detalles Bibliográficos
Autores principales: Narumi, Satoshi, Matsuo, Kumihiro, Ishii, Tomohiro, Tanahashi, Yusuke, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3607597/
https://www.ncbi.nlm.nih.gov/pubmed/23536913
http://dx.doi.org/10.1371/journal.pone.0060525

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