Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human k...
Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts
About this item
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Author / Creator
Mallawaarachchi, Amali C. , Hort, Yvonne , Wedd, Laura , Lo, Kitty , Senum, Sarah , Toumari, Mojgan , Chen, Wenhan , Utsiwegota, Mike , Mawson, Jane , Leslie, Scott , Laurence, Jerome , Anderson, Lyndal , Snelling, Paul , Salomon, Robert , Rangan, Gopala K. , Furlong, Timothy , Shine, John and Cowley, Mark J.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Autosomal Dominant Polycystic Kidney Disease (ADPKD) results in progressive cysts that lead to kidney failure, and is caused by heterozygous germline variants in
PKD1
or
PKD2
. Cyst pathogenesis is not definitively understood. Somatic second-hit mutations have been implicated in cyst pathogenesis, though technical sequencing challenges...
Alternative Titles
Full title
Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts
Authors, Artists and Contributors
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_1a05e0b9603d4e3bb0d6b69e68124452
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1a05e0b9603d4e3bb0d6b69e68124452
Other Identifiers
ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-024-00452-6
