Identification of Two Novel Mutations in PKHD1 Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing

BACKGROUND: Polycystic kidney disease (PKD) is an autosomal recessive disorder resulting from mutations in the PKHD1 gene on chromosome 6 (6p12), a large gene spanning 470 kb of genomic DNA. OBJECTIVE: The aim of the present study was to report newly identified mutations in the PKHD1 gene in two Ira...

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Detalles Bibliográficos
Autores principales: Heidari, Masoud, Gharshasbi, Hamid, Isazadeh, Alireza, Soleyman-Nejad, Morteza, Taskhiri, Mohammad Hossein, Shapouri, Javad, Bolhassani, Manzar, Sadighi, Nahid, Heidari, Mansour
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8640847/
https://www.ncbi.nlm.nih.gov/pubmed/34975292
http://dx.doi.org/10.2174/1389202922666210219111810

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8640847/
https://www.ncbi.nlm.nih.gov/pubmed/34975292
http://dx.doi.org/10.2174/1389202922666210219111810

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