Associated Papers
The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified.
Avela K et al.
Acta Ophthalmologica, 2019
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf
Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis.
Mistry K et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2007
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