Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at the primary cilium, NPH is classified as a ciliopathy. We identified mutatio...

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Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: Macia, Maxence S., Halbritter, Jan, Delous, Marion, Bredrup, Cecilie, Gutter, Arthur, Filhol, Emilie, Mellgren, Anne E.C., Leh, Sabine, Bizet, Albane, Braun, Daniela A., Gee, Heon Y., Silbermann, Flora, Henry, Charline, Krug, Pauline, Bole-Feysot, Christine, Nitschké, Patrick, Joly, Dominique, Nicoud, Philippe, Paget, André, Haugland, Heidi, Brackmann, Damien, Ahmet, Nayir, Sandford, Richard, Cengiz, Nurcan, Knappskog, Per M., Boman, Helge, Linghu, Bolan, Yang, Fan, Oakeley, Edward J., Saint Mézard, Pierre, Sailer, Andreas W., Johansson, Stefan, Rødahl, Eyvind, Saunier, Sophie, Hildebrandt, Friedhelm, Benmerah, Alexandre
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2017
Gaiak:
Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5294754/
https://ncbi.nlm.nih.gov/pubmed/28089251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.12.011
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