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Article

Large-scale epidemiological study on feline autosomal dominant polycystic kidney disease and identification of novel PKD1 gene variants.

Journal of feline medicine and surgery - 1 Jul 2023

Shitamori Fumitaka, Nonogaki Ayaka, Motegi Tomoki, Matsumoto Yuki, Sakamoto Mika, Tanizawa Yasuhiro, Nakamura Yasukazu, Yonezawa Tomohiro, Momoi Yasuyuki, Maeda Shingo

Abstract excerpt

OBJECTIVES: Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disease in cats. In most cases, the responsible abnormality is a nonsense single nucleotide polymorphism in exon 29 of the PKD1 gene (chrE3:g.42858112C>A, the conventional PKD1 variant). The aim of this study was to conduct a large-scale epidemiological study of ADPKD caused by the conventional PKD1 variant in Japan and to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37489504
DOI: 10.1177/1098612X231185393
PMCID: PMC10812055

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