Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD) | Zendy

Julia Hoefele | Zendy; Karin Mayer | Zendy; Markus Scholz | Zendy; HannsGeorg Klein | Zendy

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Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD)

Author(s) -

Julia Hoefele,

Karin Mayer,

Markus Scholz,

HannsGeorg Klein

Publication year - 2010

Publication title -

nephrology dialysis transplantation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.654

H-Index - 168

eISSN - 1460-2385

pISSN - 0931-0509

DOI - 10.1093/ndt/gfq720

Subject(s) - pkd1 , medicine , autosomal dominant polycystic kidney disease , polycystic kidney , polycystic kidney disease , disease , genetics , kidney disease , mutation , gene , biology

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic renal disorder with an incidence of 1:1000. Mutations in two genes (PKD1 and PKD2) have been identified as causative. Eighty-five percent of patients with ADPKD carry their mutation in the PKD1 gene. So far, > 500 mutations for PKD1 and > 120 mutations for PKD2, respectively, are known.

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