Associated Papers
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report.
Graziani L et al.
Genes, 2023
Polycystic Kidney Disease Caused by Bilineal Inheritance of Truncating PKD1 as Well as PKD2 Mutations.
Losekoot M et al.
Kidney International Reports, 2020
A missense mutation in PKD1 attenuates the severity of renal disease.
Pei Y et al.
Kidney International, 2012
Transient receptor potential genes and human inherited disease.
Everett KV
Advances in Experimental Medicine and Biology, 2011
Genetic modifiers in human development and malformation syndromes, including chaperone proteins.
Slavotinek A et al.
Human Molecular Genetics, 2003
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.
Pei Y et al.
American Journal of Human Genetics, 2001
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