Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome

作者:Jaouad Imane Cherkaoui; Lyahyai Jaber; Guaoua Soukaina; El Alloussi Mustapha; Zrhidri Abdelali; Doubaj Yassamine; Boulanouar Abdelkrim; Sefiani Abdelaziz
来源:European Journal of Medical Genetics, 2017, 60(5): 239-244.
DOI:10.1016/j.ejmg.2017.02.004