Llwytho...

Nephronophthisis: Disease Mechanisms of a Ciliopathy

Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic cause of end-stage kidney disease in children and young adults. Positional cloning of nine genes (NPHP1-9) and functional characterization of their encoded proteins (nephrocystins) has contributed to a unifying...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Hildebrandt, Friedhelm, Attanasio, Massimo, Otto, Edgar
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2008
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2807379/
https://ncbi.nlm.nih.gov/pubmed/19118152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2008050456
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