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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Gatta, Valentina, Gennaro, Elena, Franchi, Sara, Cecconi, Massimiliano, Antonucci, Ivana, Tommasi, Marco, Palka, Giandomenico, Coviello, Domenico, Stuppia, Liborio, Grasso, Marina
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2013
विषय:
Research Article
ऑनलाइन पहुंच: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
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