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Brief report

First published 2000-12

Novel Mutations in the Duplicated Region of the Polycystic Kidney Disease 1 ( PKD1 ) Gene Provides Supporting Evidence for Gene Conversion

Ali R. Afzal, Rodrigo N. Florêncio, Rohan Taylor [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 1996-1

A 2.5 kb Polypyrimidine Tract in the PKD1 Gene Contains at Least 23 H-DNA-Forming Sequences

Terence J. van Raay, Timothy C. Burn, Timothy D. Connors [...]

OMICS: A Journal of Integrative Biology

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Brief report

First published 2001-03

Amplification of a 13.5-kb Region of the PKD1 Gene Containing the 2.5-kb Polypyrimidine Tract in Intron 21 Facilitates Mutation Detection in This Gene

A.R. Afzal, S. Jeffery

Genetic Testing and Molecular Biomarkers

Free access

Research article

First published 2020-7

Prevalence of PKD1 gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease

Nüket Bilgen, Merve Bişkin Türkmen, Bengi Çınar Kul [...]

Journal of Veterinary Diagnostic Investigation

Open access

Research article

First published 2023-7

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

Fumitaka Shitamori, Ayaka Nonogaki, Tomoki Motegi [...]

Journal of Feline Medicine and Surgery

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Research article

First published 2016-7

Validation of the Autosomal Dominant Polycystic Kidney Disease Molecular Diagnosis by Next Generation Sequencing technology

Francesca Ferrari, Silvana Tedeschi, Roberta Cerutti [...]

Giornale di Tecniche Nefrologiche e Dialitiche

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Research article

First published 2024-3

TSC2/PKD1 Contiguous Gene Deletion Syndrome

Javier Arredondo Montero, Mónica Bronte Anaut, María Velayos [...]

Clinical Pediatrics

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Research article

First published 1997-07

The Han:SPRD rat is not a genetic model of human autosomal dominant polycystic kidney disease type 1

Laboratory Animals

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Research article

First published 2025-05

Utilizing Long-Read Sequencing for Haplotype Construction and Prevention of Autosomal Dominant Polycystic Kidney Disease Transmission in Mosaicism Family

Wu Zubo, Jie Liu, Yi Liu [...]

DNA and Cell Biology

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Case report

First published 2001-12

Tuberous Sclerosis Complex with an Unruptured Intracranial Aneurysm: Manifestations of Contiguous Gene Syndrome

Y.L. Chen, C.B. Luo, S.W. Hsu [...]

Interventional Neuroradiology

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