Detection of Rare Somatic GNAS Mutation in McCune-Albright Syndrome Using a Novel Peptide Nucleic Acid Probe in a Single Tube

McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations—R201H or R201C—in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene. In t...

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Detalles Bibliográficos
Autores principales: Lo, Fu-Sung, Chen, Tai-Long, Chiou, Chiuan-Chian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6150203/
https://www.ncbi.nlm.nih.gov/pubmed/29104223
http://dx.doi.org/10.3390/molecules22111874

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