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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Gatta, Valentina, Gennaro, Elena, Franchi, Sara, Cecconi, Massimiliano, Antonucci, Ivana, Tommasi, Marco, Palka, Giandomenico, Coviello, Domenico, Stuppia, Liborio, Grasso, Marina
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3751107/
https://ncbi.nlm.nih.gov/pubmed/23914933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-79
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados