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

An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease

ATP7B 启动子中纯合变异破坏的 MTF1 结合位点可能导致威尔逊病

Heidi I Chen, Karthik A Jagadeesh, Johannes Birgmeier, Aaron M Wenger, Harendra Guturu, Susan Schelley, Jonathan A Bernstein, Gill Bejerano

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

由于双等位基因 TANGO2 突变导致的复发性肌无力伴有横纹肌溶解症、代谢危机和心律失常

Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, Levi B Watkin, Theodore Chiang, Magalie S Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y Miyake, Marwan Shinawi, Tomasz Gambin, Mohammad K Eldomery, Zeynep Hande Coban Akdemir, Lisa Emrick, Yael Wilnai, Susan Schelley, Mary Ka