Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder characterized by progressive cyst formation and expansion in the kidneys, which culminates in end-stage renal disease. Aortic dissection is a rare vascular complication of ADPKD and related...

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Detalles Bibliográficos
Autores principales: Zhang, Wenwen, Han, Qian, Liu, Zhao, Zhou, Wei, Cao, Qing, Zhou, Weimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789703/
https://www.ncbi.nlm.nih.gov/pubmed/29378535
http://dx.doi.org/10.1186/s12881-018-0536-6

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