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Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder. It is caused by mutations in the PKD1 and PKD2 genes, and manifests as progressive cyst growth and renal enlargement, resulting in renal failure. Although there have been a few studies on t...

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Detalles Bibliográficos
Autores principales: Choi, Rihwa, Park, Hayne Cho, Lee, Kyunghoon, Lee, Myoung-Gun, Kim, Jong-Won, Ki, Chang-Seok, Hwang, Young-Hwan, Ahn, Curie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411869/
https://www.ncbi.nlm.nih.gov/pubmed/25491204
http://dx.doi.org/10.1186/s12881-014-0129-y