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Updated: Jan 17, 2026

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
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单基因IFT140变体导致儿童发病自体主导多囊性病

Joshua D Griffiths1, Grace Ehidiamhen2, Sergio Camilo Lopez-Garcia2

  • 1Kidney Genetics Group, Division of Clinical Medicine, University of Sheffield Medical School, Sheffield, United Kingdom; Sheffield Kidney Institute, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom.

American journal of kidney diseases : the official journal of the National Kidney Foundation
|September 19, 2025
PubMed
概括

IFT140中的遗传变异会导致自身主导的多囊性病 (ADPKD). 这项研究确定了儿童的IFT140相关ADPKD,扩大了疾病.

关键词:
在 ADPKDD 中,早期发生的PKD.IFT140 的意思是家庭内部的变异性脏囊 脏囊是什么意思

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