Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
STUB1 中的显性遗传变异在 SCA48 家族中分离,在体外表现出与 SCAR16 相关的隐性变异无法区分的功能障碍
期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms22115870
Pakdaman Yasaman, Berland Siren, Bustad Helene J, Erdal Sigrid, Thompson Bryony A, James Paul A, Power Kjersti N, Ellingsen Ståle, Krooni Martin, Berge Line I, Sexton Adrienne, Bindoff Laurence A, Knappskog Per M, Johansson Stefan, Aukrust Ingvild