Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts

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, t...

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Veröffentlicht in:	Npj genomic medicine 2024-12, Vol.9 (1), p.69-9
Hauptverfasser:	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, Cowley, Mark J.
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/212/2301 631/208/514/1948 692/308/2056 692/420/2489/144 692/699/1585/1589 Bioinformatics Biomedical and Life Sciences Biomedicine Cysts End-stage renal disease Gene Function Gene Therapy Human Genetics Internal Medicine Kidney diseases Mutation Pathogenesis Polycystic kidney Renal failure
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