A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report

Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic renal disorder in humans, affecting 1 in 400 to 1000 individuals. Mutations PKD1 (which accounts for 85% of ADPKD and produces polycystin-1) and PKD2 (produces polycystin-2) are responsible for this...

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Autors principals:	Peiwen Xu, Sexing Huang, Jie Li, Yang Zou, Ming Gao, Ranran Kang, Junhao Yan, Xuan Gao, Yuan Gao
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2018-11-01
Col·lecció:	BMC Medical Genetics
Matèries:	Autosomal dominant polycystic kidney disease PKD1 gene Novel splice mutation Frameshift mutation
Accés en línia:	http://link.springer.com/article/10.1186/s12881-018-0706-6
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