[Molecular genetic screening for polycystic kidney disease can be an important diagnostic tool].
作者信息
Rasmussen Maria, Ørskov Bjarne, Skytte Anne-Bine, Sunde Lone
机构信息
Klinisk Genetisk Afdeling, Aarhus Universitetshospital, Brendstrupgårdsvej 21C, 8200 Aarhus N.
出版信息
Ugeskr Laeger. 2014 Jan 27;176(5A):V08130496.
PMID:25347339
Abstract
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.
摘要
Zotero 插件