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Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA
Fragile X syndrome (FXS) results from a CGG-repeat expansion that triggers hypermethylation and silencing of the FMR1 gene. FXS is referred to as the most common form of inherited intellectual disability, yet its true incidence has never been measured directly by large population screening. Here, we...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2756550/ https://ncbi.nlm.nih.gov/pubmed/19804849 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.09.007 |
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