Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome
由于非编码区纯合缺失导致KLC2过度表达,从而引起SPOAN综合征。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddv388
Melo, Uirá S; Macedo-Souza, Lucia I; Figueiredo, Thalita; Muotri, Alysson R; Gleeson, Joseph G; Coux, Gabriela; Armas, Pablo; Calcaterra, Nora B; Kitajima, João P; Amorim, Simone; Olávio, Thiago R; Griesi-Oliveira, Karina; Coatti, Giuliana C; Rocha, Clarissa R R; Martins-Pinheiro, Marinalva; Menck, Carlos F M; Zaki, Maha S; Kok, Fernando; Zatz, Mayana; Santos, Silvana