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Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.

Genes - 9 Feb 2023

Suzuki Yasuo, Katayama Kan, Saiki Ryosuke, Hirabayashi Yosuke, Murata Tomohiro, Ishikawa Eiji, Ito Masaaki, Dohi Kaoru

Abstract excerpt

Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by bilateral kidney cysts that ultimately lead to end-stage kidney disease. While the major causative genes of ADPKD are PKD1 and PKD2, other genes are also thought to be involved. Fifty ADPKD patients were analyzed by exome sequencing or multiplex ligation-dependent probe amplification (MLPA), followed by long polymerase chain reaction and...

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Identifiers

PMID: 36833371
DOI: 10.3390/genes14020443
PMCID: PMC9956291

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