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

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion

亨廷顿病 LIG1 修饰基因变体可提高连接酶的保真度并抑制体细胞 CAG 重复序列扩增。

Lee, Eunhye; Kim, Wonju; Beier, David H; Lee, Yejin; Kovalenko, Marina; Saif, Faaiza; Oliver, Esaria; Srinageshwar, Bhairavi; Murtha, Ryan; Andrew, Marissa A; Jiang, Andrew; Gillis, Tammy; Demelo, Brigitte; Ruliera, Jayla; Lucente, Diane; Kwak, Seung; Lee, Ramee; Pinto, Ricardo Mouro; MacDonald, Marcy E; Gusella, James F; O'Brien, Patrick J; Wheeler, Vanessa C; Seong, Ihn Sik

TRACE: Open-Source Software for Quantifying Somatic Variation of Tandem Repeats by Capillary Electrophoresis

TRACE:用于通过毛细管电泳定量串联重复序列体细胞变异的开源软件

Jiang, Andrew; Correia, Kevin; Gillis, Tammy; Oliver, Esaria L; Jones, Benjamin P; McAllister, Branduff; Maza, Alan Mejia; MacDonald, Marcy E; Pinto, Ricardo Mouro; Wheeler, Vanessa C; Gusella, James F; McLean, Zachariah L

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion.

亨廷顿病 LIG1 修饰变体可提高连接酶的保真度并抑制体细胞 CAG 重复扩增

Lee Eunhye, Kim Wonju, Beier David H, Lee Yejin, Kovalenko Marina, Saif Faaiza, Oliver Esaria, Murtha Ryan, Andrew Marissa A, Gillis Tammy, Demelo Brigitte, Srinageshwar Bhairavi, Ruliera Jayla, Lucente Diane, Kwak Seung, Lee Ramee, Pinto Ricardo Mouro, MacDonald Marcy E, Gusella James F, O'Brien Patrick J, Wheeler Vanessa C, Seong Ihn Sik