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

Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter

新发现的铜代谢紊乱是由高亲和力铜转运蛋白 CTR1 的变异引起的

Spyros Batzios, Galit Tal, Andrew T DiStasio, Yanyan Peng, Christiana Charalambous, Paola Nicolaides, Erik-Jan Kamsteeg, Stanley H Korman, Hanna Mandel, Peter J Steinbach, Ling Yi, Summer R Fair, Mark E Hester, Anthi Drousiotou, Stephen G Kaler1

Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome

PPP1R13L 序列变异导致一种新型心脏皮肤综合征

Tzipora C Falik-Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter-Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni,