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A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune–Albright syndrome

Somatic mutations are present in various proportions in numerous developmental pathologies. Somatic activating missense mutations of the GNAS gene encoding the Gs(α) protein have previously been shown to be the cause of fibrous dysplasia of bone (FD)/McCune-Albright syndrome (MAS). Because in MAS pa...

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Publicado en:Nucleic Acids Res
Autores principales: Karadag, Abdullah, Riminucci, Mara, Bianco, Paolo, Cherman, Natasha, Kuznetsov, Sergei A., Nguyen, Nga, Collins, Michael T., Robey, Pamela G., Fisher, Larry W.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2004
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Acceso en línea:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC407839/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15096559/
https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/gnh059
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