Article
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
American journal of human genetics - 2 Feb 2017
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
Abstract excerpt
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 mutations in a candidate gene in eight individuals from five families presenting late-onset NPH with massive renal...
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