A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

Spinal muscular atrophy (SMA) is a common autosomal-recessive motor neuron disease caused by the homozygous loss of the SMN1 gene. A nearly identical gene, SMN2, has been shown to decrease the severity of SMA in a dose-dependent manner. However SMN2 is not the sole phenotypic modifier, because there...

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Detalhes bibliográficos
Main Authors: Prior, Thomas W., Krainer, Adrian R., Hua, Yimin, Swoboda, Kathryn J., Snyder, Pamela C., Bridgeman, Scott J., Burghes, Arthur H.M., Kissel, John T.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2771537/
https://ncbi.nlm.nih.gov/pubmed/19716110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.08.002
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