Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis

Premutation and full-mutation hyperexpansion of CGG-triplets in the X-linked Fragile X Mental Retardation 1 (FMR1) gene have been implicated in fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X syndrome (FXS), respectively. The currently a...

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Detalles Bibliográficos
Autores principales: Rajan-Babu, Indhu-Shree, Law, Hai-Yang, Yoon, Chui-Sheun, Lee, Caroline G., Chong, Samuel S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2015
Materias:
Discovery
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836207/
https://www.ncbi.nlm.nih.gov/pubmed/25936533
http://dx.doi.org/10.1017/erm.2015.5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836207/
https://www.ncbi.nlm.nih.gov/pubmed/25936533
http://dx.doi.org/10.1017/erm.2015.5

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