A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8

BACKGROUND: Nephronophthisis (NPHP) as a cause of cystic kidney disease is the most common genetic cause of progressive renal failure in children and young adults. NPHP is characterized by abnormal and/or loss of function of proteins associated with primary cilia. Previously, we characterized an aut...

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Autors principals: McCooke, John K, Appels, Rudi, Barrero, Roberto A, Ding, Alice, Ozimek-Kulik, Justyna E, Bellgard, Mathew I, Morahan, Grant, Phillips, Jacqueline K
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3441220/
https://ncbi.nlm.nih.gov/pubmed/22899815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-13-393
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