Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD), the predominant type of inherited kidney disorder, occurs due to PKD1 and PKD2 gene mutations. ADPKD diagnosis is made primarily by kidney imaging. However, molecular genetic analysis is required to confirm the diagnosis. It is critic...

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Detalles Bibliográficos
Autores principales: Khadangi, Fatemeh, Torkamanzehi, Adam, Kerachian, Mohammad Amin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507688/
https://www.ncbi.nlm.nih.gov/pubmed/32957937
http://dx.doi.org/10.1186/s12882-020-02069-0

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