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Autosomal Dominant Polycystic Kidney Disease: Presence of Hypomorphic Alleles in PKD1 Gene

Autosomal dominant polycystic kidney disease is characterized by multiple cysts in both kidneys manifesting in adult life. In general, the disorder is caused by a pathogenic variant in one allele of PKD1 or PKD2 genes, while the other allele is normal. Pathogenic variants in both the alleles are rar...

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Bibliografski detalji
Izdano u:Indian J Nephrol
Glavni autori: Pandita, S., Khullar, D., Saxena, R., Verma, I. C.
Format: Artigo
Jezik:Inglês
Izdano: Medknow Publications & Media Pvt Ltd 2018
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6309388/
https://ncbi.nlm.nih.gov/pubmed/30647506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijn.IJN_236_17
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