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Newborn Screening and Cascade Testing for FMR1 Mutations
We describe an ongoing pilot project in which newborn screening (NBS) for FMR1 mutations and subsequent cascade testing are performed by the MIND Institute at the University of California, Davis Medical Center (UCDMC). To date, out of 3042 newborns initially screened, 44 extended family members have...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3980469/ https://ncbi.nlm.nih.gov/pubmed/23239591 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35680 |
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