Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
XPNPEP3 基因发生突变（该基因编码一种线粒体蛋白）的个体，会发展出类似肾痨的肾病。
期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/jci43883
Neill, Ushma S; Honey, Karen; O’Toole, John F; Liu, Yangjian; Davis, Erica E; Westlake, Christopher J; Attanasio, Massimo; Otto, Edgar A; Seelow, Dominik; Nurnberg, Gudrun; Becker, Christian; Nuutinen, Matti; Kärppä, Mikko; Ignatius, Jaakko; Uusimaa, Johanna; Pakanen, Salla; Jaakkola, Elisa; van den Heuvel, Lambertus P; Fehrenbach, Henry; Wiggins, Roger; Goyal, Meera; Zhou, Weibin; Wolf, Matthias TF; Wise, Eric; Helou, Juliana; Allen, Susan J; Murga-Zamalloa, Carlos A; Ashraf, Shazia; Chaki, Moumita; Heeringa, Saskia; Chernin, Gil; Hoskins, Bethan E; Chaib, Hassan; Gleeson, Joseph; Kusakabe, Takehiro; Suzuki, Takako; Isaac, R Elwyn; Quarmby, Lynne M; Tennant, Bryan; Fujioka, Hisashi; Tuominen, Hannu; Hassinen, Ilmo; Lohi, Hellevi; van Houten, Judith L; Rotig, Agnes; Sayer, John A; Rolinski, Boris; Freisinger, Peter; Madhavan, Sethu M; Herzer, Martina; Madignier, Florence; Prokisch, Holger; Nurnberg, Peter; Jackson, Peter K; Khanna, Hemant; Katsanis, Nicholas; Hildebrandt, Friedhelm
