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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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Bibliografski detalji
Glavni autori: Chong, Jessica X, Oktay, A Afşin, Dai, Zunyan, Swoboda, Kathryn J, Prior, Thomas W, Ober, Carole
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2011
Teme:
Online pristup: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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