Associated Papers
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC et al.
Kidney International Reports, 2022
36090483 (PubMed )
Supplement: mmc1.pdf
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Hoefele J et al.
Human Mutation, 2005
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
Otto E et al.
American Journal of Human Genetics, 2002
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