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A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites
Spinal muscular atrophy (SMA) is an autosomal recessive (AR) neuromuscular disease that is one of the most common lethal genetic disorders in children, with carrier frequencies as high as ∼1 in 35 in US Whites. As part of our genetic studies in the Hutterites from South Dakota, we identified a large...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3190247/ https://ncbi.nlm.nih.gov/pubmed/21610747 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.85 |
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