Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease

BACKGROUND: Dysfunction of polycystin-1 or polycystin-2, the proteins encoded by polycystic kidney disease 1 (PKD1) and PKD2, respectively, are the cause of autosomal dominant PKD (ADPKD). This genetically heterogeneous monogenic disorder is the most common inherited kidney disease. The disease mani...

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Detalles Bibliográficos
Autores principales: Bitarafan, Fatemeh, Garshasbi, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540774/
https://www.ncbi.nlm.nih.gov/pubmed/31160911
http://dx.doi.org/10.4103/jrms.JRMS_835_18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540774/
https://www.ncbi.nlm.nih.gov/pubmed/31160911
http://dx.doi.org/10.4103/jrms.JRMS_835_18

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