A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a...
A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report
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Author / Creator
Xu, Peiwen , Huang, Sexing , Li, Jie , Zou, Yang , Gao, Ming , Kang, Ranran , Yan, Junhao , Gao, Xuan and Gao, Yuan
Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic renal disorder in humans, affecting 1 in 400 to 1000 individuals. Mutations PKD1 (which accounts for 85% of ADPKD and produces polycystin-1) and PKD2 (produces polycystin-2) are responsible for this disease. These two polycystins are critical for maintaining normal re...
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Full title
A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_11c7de69c5eb45fdb3895400983bbc7b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_11c7de69c5eb45fdb3895400983bbc7b
Other Identifiers
ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-018-0706-6
