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senior-loken syndrome
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NPHP4
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution
IQCB1
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
CEP290
CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.
SDCCAG8
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
NPHP1
Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity
Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides
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