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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Detalles Bibliográficos
Autores principales: Pandita, S., Khullar, D., Saxena, R., Verma, I. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309388/
https://www.ncbi.nlm.nih.gov/pubmed/30647506
http://dx.doi.org/10.4103/ijn.IJN_236_17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309388/
https://www.ncbi.nlm.nih.gov/pubmed/30647506
http://dx.doi.org/10.4103/ijn.IJN_236_17

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