Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families
Arg338* AP4M1 (SPG50) 变异体可能具有创始人效应，导致严重智力障碍、癫痫和痉挛性截瘫：三个家族的报告
期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14264
Becker, Aurélie; Felici, Charlotte; Lambert, Laëtitia; de Saint Martin, Anne; Abi-Warde, Marie-Thérèse; Schaefer, Elise; Zix, Christian; Zamani, Mina; Sadeghian, Saeid; Zeighami, Jawaher; Seifi, Tahereh; Azizimalamiri, Reza; Shariati, Gholamreza; Galehdari, Hamid; Selig, Mareike; Ding, Can; Duerinckx, Sarah; Pirson, Isabelle; Abramowicz, Marc; Clément, Guillemette; Leheup, Bruno; Jonveaux, Philippe; Lefort, Geneviève; Bronner, Myriam; Renaud, Mathilde; Bonnet, Céline
