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

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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Bibliographic Details
Main Authors: Satoshi Narumi, Kumihiro Matsuo, Tomohiro Ishii, Yusuke Tanahashi, Tomonobu Hasegawa
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3607597?pdf=render

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