PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited monogenic renal disease characterised by the accumulation of clusters of fluid-filled cysts in the kidneys and is caused by mutations in PKD1 or PKD2 genes. ADPKD genetic diagnosis is complicated by PKD1 pseudogenes located proxima...

Descripción completa

Detalles Bibliográficos
Autores principales: Ali, Hamad, Al-Mulla, Fahd, Hussain, Naser, Naim, Medhat, Asbeutah, Akram M., AlSahow, Ali, Abu-Farha, Mohamed, Abubaker, Jehad, Al Madhoun, Ashraf, Ahmad, Sajjad, Harris, Peter C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412018/
https://www.ncbi.nlm.nih.gov/pubmed/30858458
http://dx.doi.org/10.1038/s41598-019-40761-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412018/
https://www.ncbi.nlm.nih.gov/pubmed/30858458
http://dx.doi.org/10.1038/s41598-019-40761-w

Ejemplares similares