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

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

通过临床基因组学方法鉴定出儿童白内障的新表型和基因位点

Patel, Nisha; Anand, Deepti; Monies, Dorota; Maddirevula, Sateesh; Khan, Arif O; Algoufi, Talal; Alowain, Mohammed; Faqeih, Eissa; Alshammari, Muneera; Qudair, Ahmed; Alsharif, Hadeel; Aljubran, Fatimah; Alsaif, Hessa S; Ibrahim, Niema; Abdulwahab, Firdous M; Hashem, Mais; Alsedairy, Haifa; Aldahmesh, Mohammed A; Lachke, Salil A; Alkuraya, Fowzan S

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.

线粒体载体 SLC25A42 的突变会导致人类患上一种新型的线粒体肌病

Shamseldin Hanan E, Smith Laura L, Kentab Amal, Alkhalidi Hisham, Summers Brady, Alsedairy Haifa, Xiong Yong, Gupta Vandana A, Alkuraya Fowzan S