Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot
深内含子SVA_E插入被确定为与卡纳万病相关的最常见致病变异:诊断盲点
期刊:Neurol Genet
影响因子:3.000
doi:10.1212/NXG.0000000000200291.
Carlos A Dominguez Gonzalez ,Katrina M Bell ,Ramakrishnan Rajagopalan ,Michelle G de Silva ,Aída Lemes ,Cristina Zabala ,Florencia Pérez-Vidarte ,Alfredo Cerisola ,Arastoo Vossough ,Matthew T Whitehead ,Chloe Cunningham ,Natasha J Brown ,Rebecca Quin ,Cas Simons ,Thomas Conway ,Eloise Uebergang ,Rocio Rius ,Meutia A Kumaheri ,Emma R Kotes ,Ananya Vohra ,Miranda P G Zalusky ,Zachary B Anderson ,Sophie H R Storz ,Sydney A Ward ,Joy Goffena ,Jonas A Gustafson ,Susan M White ,Adeline Vanderver ,Danny E Miller