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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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Am J Hum Genet
Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2017
נושאים:
Report
גישה מקוונת: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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