Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

O'TOOLE John F.; LIU Yangjian; DAVIS Erica E.; DAVIS Erica E.; WESTLAKE Christopher J.; ATTANASIO Massimo; OTTO Edgar A.; SEELOW Dominik; SEELOW Dominik; NURNBERG Gudrun; BECKER Christian; NUUTINEN Matti; KAERPPAE Mikko; IGNATIUS Jaakko; UUSIMAA Johanna; PAKANEN Salla; JAAKKOLA Elisa; VAN DEN HEUVEL Lambertus P.; FEHRENBACH Henry; WIGGINS Roger; GOYAL Meera; ZHOU Weibin; WOLF Matthias T. F.; WISE Eric; HELOU Juliana; ALLEN Susan J.; MURGA-ZAMALLOA Carlos A.; ASHRAF Shazia; CHAKI Moumita; HEERINGA Saskia; CHERNIN Cil; HOSKINS Bethan E.; CHAIB Hassan; GLEESON Joseph; KUSAKABE Takehiro; KUSAKABE Takehiro; SUZUKI Takako; SUZUKI Takako; ISAAC R. Elwyn; QUARMBY Lynne M.

Art

J-GLOBAL ID：201102208756001159 Reference number：11A0682654

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

髄質性嚢胞腎様腎症を発症するミトコンドリアタンパク質をコード化するXPNPEP3の突然変異を有する者

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Material：
Volume： 120 Issue： 3 Page： 791-802 Publication year： Mar. 2010
JST Material Number： B0520B ISSN： 0021-9738 Document type： Article
Country of issue： United States (USA) Language： ENGLISH (EN)

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