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

af 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 T.F., 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
Udgivet 2010

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

af 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 T.F., 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, Khanna, Hemant, Katsanis, Nicholas, Hildebrandt, Friedhelm
Udgivet 2010