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...

全面介紹

Na minha lista:
書目詳細資料
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.
格式: Artigo
語言:Inglês
出版: Elsevier 2009
主題:
Report
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍