相关实验视频

Updated: Mar 3, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.9K

揭露一个异卵性SLC12A3变体

Chang Xu1,2, Pietra Greenberg1,2, Moses Bachan1

  • 1James J. Peters VAMC, Bronx, NY.

Kidney medicine
|March 2, 2026
PubMed
概括

甲基的使用揭示了Gitelman综合症的状况,该病患者具有单个功能性 thiazide-sensitive 合运输体 (SLC12A3) 的单个等位基因,导致严重的电解质干扰和体重减轻. 基因测试揭示了SLC12A3.3.中的一种致病变体.

关键词:
吉特曼综合征 (Gitelman综合征) 是一种这种高血压,高血压.低血糖症 (hypokalemia) 是一种疾病.过低血症是什么意思提亚化物 提亚化物

更多相关视频

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

796
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.4K

相关概念视频

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
80