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Fragile X syndrome: the FMR1 CGG repeat distribution among world populations
Fragile X Syndrome (FXS) is characterized by moderate to severe intellectual disability which is accompanied by macroorchidism and distinct facial morphology. FXS is caused by the expansion of the CGG trinucleotide repeat in the 5′ untranslated region of the Fragile X mental retardation 1 (FMR1) gen...
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| Hlavní autor: | |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2011
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3288311/ https://ncbi.nlm.nih.gov/pubmed/22188182 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-1809.2011.00694.x |
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