Article
[Molecular genetic screening for polycystic kidney disease can be an important diagnostic tool].
Ugeskrift for laeger - 27 Jan 2014
Rasmussen Maria, Ørskov Bjarne, Skytte Anne-Bine, Sunde Lone
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is associated with mutation in the PKD1- or PKD2-gene. We present two cases with an atypical presentation of ADPKD. Molecular genetic screening of PKD1 and PKD2 confirmed the diagnoses. Screening of PKD1 and PKD2 has become an important diagnostic tool.
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