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Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions
The CGG repeat within the premutation range in the FMR1 gene can lead to neurodegenerative disorders and intellectual disabilities. An increase in size upon transmission from parent to child is more likely to occur for larger alleles and without AGG interruptions. We describe the molecular structure...
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| Asıl Yazarlar: | , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2013
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4003888/ https://ncbi.nlm.nih.gov/pubmed/23739124 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2013.50 |
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