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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Chong, Jessica X, Oktay, A Afşin, Dai, Zunyan, Swoboda, Kathryn J, Prior, Thomas W, Ober, Carole
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2011
Pynciau:
Article
Mynediad Ar-lein: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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