Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
皮肤成纤维细胞中的转录本、蛋白质、代谢物和细胞研究表明 NPC1 突变具有不同的致病影响
期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-020-01360-5
Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T Vanier, Martin Hrebicek
