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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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Detalhes bibliográficos
Publicado no:Nucleic Acids Res
Principais autores: Karadag, Abdullah, Riminucci, Mara, Bianco, Paolo, Cherman, Natasha, Kuznetsov, Sergei A., Nguyen, Nga, Collins, Michael T., Robey, Pamela G., Fisher, Larry W.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2004
Assuntos:
Acesso em linha: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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