日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Shared and distinct mechanisms of UBA1 inactivation across different diseases

不同疾病中 UBA1 失活的共同机制和不同机制

Jason C Collins, Samuel J Magaziner, Maya English, Bakar Hassan, Xiang Chen, Nicholas Balanda, Meghan Anderson, Athena Lam, Sebastian Fernandez-Pol, Bernice Kwong, Peter L Greenberg, Benjamin Terrier, Mary E Likhite, Olivier Kosmider, Yan Wang, Nadine L Samara, Kylie J Walters, David B Beck #, Achim

Shared and Distinct Mechanisms of UBA1 Inactivation Across Different Diseases

不同疾病中 UBA1 失活的共同机制和不同机制

Jason C Collins, Samuel J Magaziner, Maya English, Bakar Hassan, Xiang Chen, Nicholas Balanda, Meghan Anderson, Athena Lam, Sebastian Fernandez-Pol, Bernice Kwong, Peter L Greenberg, Benjamin Terrier, Mary E Likhite, Olivier Kosmider, Yan Wang, Nadine L Samara, Kylie J Walters, David B Beck, Achim W

Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome

两种复合体 I 基因的双等位基因变异导致轻度 Leigh 综合征患者出现异常剪接缺陷

Thomas Johnstone, Jennifer Wang, Daron Ross, Nicholas Balanda, Yan Huang, Rena Godfrey, Catherine Groden, Brandon R Barton, William Gahl, Camilo Toro, May Christine V Malicdan