Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number
在突尼斯近亲家庭的两名兄弟姐妹中鉴定出PUS1基因中一种新的截短致病变异:家族内表型变异与线粒体DNA拷贝数相关
期刊:Ann Hematol
影响因子:3.000
doi:10.1007/s00277-025-06259-4.
Marwa Ammar,Sana Kmiha,Marwa Maalej,Rahma Felhi,Marwa Kharrat,Olfa Alila-Fersi,Jihen Chouchen,Ines Maaloul,Emna Mkaouar-Rebai,Thouraya Kammoun,Abdelaziz Tlili,Faiza Fakhfakh