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Identification of Novel FMR1 Variants by Massively Parallel Sequencing in Developmentally Delayed Males
Fragile X syndrome (FXS), the most common inherited form of developmental delay, is typically caused by CGG-repeat expansion in FMR1. However, little attention has been paid to sequence variants in FMR1. Through the use of pooled-template massively parallel sequencing, we identified 130 novel FMR1 s...
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| Hlavní autoři: | , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2010
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2946449/ https://ncbi.nlm.nih.gov/pubmed/20799337 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33626 |
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