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Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene

✍ Scribed by Miguel Viribay; Tomohito Hayashi; Dolores Tellería; Toshio Mochizuki; David M. Reynolds; Rafael Alonso; Xose M. Lens; Felipe Moreno; Peter C. Harris; Stefan Somlo; José L. San Millán

Publisher
Springer
Year
1997
Tongue
English
Weight
83 KB
Volume
101
Category
Article
ISSN
0340-6717

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Autosomal dominant polycystic kidney disease (ADPKD) is an inherited nephropathy, usually of late onset (onset between third to seventh decade), primarily characterized by the formation of fluid-filled cysts in the kidneys. It is one of the most frequent inherited conditions affecting approximately