Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference12 articles.
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2. Pathogenicity analysis of novel variations in Chinese Han patients with polycystic kidney disease;Fang;Gene,2017
3. Autosomal dominant polycystic kidney disease;Gabow;N. Engl. J. Med.,1993
4. Molecular diagnostics for autosomal dominant polycystic kidney disease;Harris;Nat. Rev. Nephrol.,2010
5. A novel PKD1 mutation in a patient with autosomal dominant polycystic kidney disease;Jamshidi;Int. J. Mol. Cell Med.,2016
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A single-center analysis of genotype–phenotype characteristics of Chinese patients with autosomal dominant polycystic kidney disease by targeted exome sequencing;Frontiers in Genetics;2022-09-15
2. Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease;Molecular Medicine Reports;2019-01-31
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