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Ciliopathies

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that affect genes encoding proteins that localize to primary cilia or centrosomes. With few exceptions, ciliopathies are inherited in an autosomal recessive manner, and affected individuals manifest early during childh...

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Dades bibliogràfiques
Publicat a:Cold Spring Harb Perspect Biol
Autors principals: Braun, Daniela A., Hildebrandt, Friedhelm
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5334254/
https://ncbi.nlm.nih.gov/pubmed/27793968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a028191
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