Article
Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.
BMC medical genetics - 20 Dec 2011
Yu Chaowen, Yang Yuan, Zou Lin, Hu Zhangxue, Li Jing, Liu Yunqiang, Ma Yongxin, Ma Mingyi, Su Dan, Zhang Sizhong
Abstract excerpt
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease with an incidence of 1 in 400 to 1000. The disease is genetically heterogeneous, with two genes identified: PKD1 (16p13.3) and PKD2 (4q21). Molecular diagnosis of the disease in at-risk individuals is complicated due to the structural complexity of PKD1 gene and the high diversity of the mutations. This...
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