Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
在患有赫勒综合征的突尼斯家系中发现一种新的剪接位点IDUA基因突变
期刊:Diagnostic Pathology
影响因子:2.3
doi:10.1186/s13000-018-0710-3
Chkioua, Latifa; Boudabous, Hela; Jaballi, Ibtissem; Grissa, Oussama; Turkia, Hadhami Ben; Tebib, Neji; Laradi, Sandrine