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Article

Novel PKD1 Mutations in Patients with Autosomal Dominant Polycystic Kidney Disease.

Laboratory medicine - 15 Mar 2021

Kim Hyerin, Kim Hyung-Hoi, Chang Chulhun L, Song Sang Heon, Kim Namhee

Abstract excerpt

OBJECTIVE: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease. Identifying mutated causative genes can provide diagnostic and prognostic information. In this study, we describe the clinical application of a next generation sequencing (NGS)-based, targeted multi-gene panel test for the genetic diagnosis of patients with ADPKD. METHODS: We applied genetic analysis on 26...

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Identifiers

PMID: 32816041
DOI: 10.1093/labmed/lmaa047

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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