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

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 disease...

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Detalles Bibliográficos
Autores principales: Xu, Peiwen, Huang, Sexing, Li, Jie, Zou, Yang, Gao, Ming, Kang, Ranran, Yan, Junhao, Gao, Xuan, Gao, Yuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234645/
https://www.ncbi.nlm.nih.gov/pubmed/30424739
http://dx.doi.org/10.1186/s12881-018-0706-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234645/
https://www.ncbi.nlm.nih.gov/pubmed/30424739
http://dx.doi.org/10.1186/s12881-018-0706-6

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