借助于受痉挛性截瘫 4 型（SPG4）影响的患者中的功能测定，破译非典型 SPAST 剪接突变。
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).
机构信息
IRCCS Neuromed, Pozzilli, Italy.
Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
出版信息
Clin Genet. 2022 Aug;102(2):155-156. doi: 10.1111/cge.14142. Epub 2022 May 6.
PMID:35524423
Abstract
Flowchart showing the molecular approach used to decipher the non-canonical splicing mutations.
摘要
流程图显示了用于破译非规范剪接突变的分子方法。
Zotero 插件