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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2018-01-01
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| Series: | Indian Journal of Nephrology |
| Subjects: | |
| Online Access: | http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2018;volume=28;issue=6;spage=482;epage=484;aulast=Pandita |