Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series
伊朗尼曼-匹克C型病患者的临床表现和分子遗传学及6例NPC1基因新变异的报告：病例系列
期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2024.101124
Saneifard, Hedyeh; Shakiba, Marjan; Alaei, Mohammadreza; Mosallanejad, Asieh; Ghanefard, Shirin; Yasaei, Mehrdad; Toudeshki, Kimia Karimi
