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Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis

Archive ouverte | Saunier, Sophie | CCSD

International audience. Nephronophtisis (NPH) is a kidney ciliopathy often associated with extra-renal defects and for which 12 genes (NPHP1-12) have been identified. NPHP1 and NPHP4 control the ciliary access at th...

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Archive ouverte | Petzold, Friederike | CCSD

International audience

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Archive ouverte | Perrault, Isabelle | CCSD

International audience. Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration responsible for congenital blindness. Hitherto, 13 LCA genes have been mapped, nine of which have been id...

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