MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting

BACKGROUND: Fragile X Syndrome (FXS), the most common cause of familiar mental retardation, is associated in over 99% of cases to an expansion over 200 repeats of a CGG sequence in the 5’ UTR of the FMR1 gene (Xq27.3), leading to the hypermethylation of the promoter. Molecular diagnosis of FXS have...

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Detalles Bibliográficos
Autores principales: Gatta, Valentina, Gennaro, Elena, Franchi, Sara, Cecconi, Massimiliano, Antonucci, Ivana, Tommasi, Marco, Palka, Giandomenico, Coviello, Domenico, Stuppia, Liborio, Grasso, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751107/
https://www.ncbi.nlm.nih.gov/pubmed/23914933
http://dx.doi.org/10.1186/1471-2350-14-79

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751107/
https://www.ncbi.nlm.nih.gov/pubmed/23914933
http://dx.doi.org/10.1186/1471-2350-14-79

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