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Updated: Jul 24, 2025

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
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Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

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在PKD1中非典型的拼接变体解释了大多数未被诊断的典型家族ADPKD

Yvonne Hort1, Patricia Sullivan2,3, Laura Wedd1,4

  • 1Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research, Sydney, Australia.

NPJ genomic medicine
|July 7, 2023
PubMed
概括

大多数未被诊断的自体主导多囊性病 (ADPKD) 病例源于PKD1基因中的拼接变异. 先进的测序和RNA研究成功诊断了89%以前未被诊断的家庭.

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Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium08:46

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