Pathogenicity analysis of novel variations in Chinese Han patients with polycystic kidney disease
Author:
Funder
National Natural Science Foundation of China
Provincial Science and Technology Project of Guangdong Province
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference47 articles.
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2. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients;Audrézet;Hum. Mutat.,2012
3. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1);Bergmann;J. Am. Soc. Nephrol.,2003
4. Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney;Chaowen;BMC Med. Genet.,2011
5. Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus;Chauvet;J. Clin. Invest.,2004
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1. Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease;Frontiers in Medicine;2023-10-11
2. A Chinese family of autosomal recessive polycystic kidney disease identified by whole exome sequencing;Medicine;2020-05-29
3. Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease;Gene;2017-11
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