Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

Nikopoulos, Konstantinos; Farinelli, Pietro; Giangreco, Basilio; Tsika, Chrysanthi; Royer-Bertrand, Beryl; Mbefo, Martial K.; Bedoni, Nicola; Kjellstrom, Ulrika; El Zaoui, Ikram; Di Gioia, Silvio Alessandro; Balzano, Sara; Cisarova, Katarina; Messina, Andrea; Decembrini, Sarah; Plainis, Sotiris; Blazaki, Styliani V.; Khan, Muhammad Imran; Micheal, Shazia; Boldt, Karsten; Ueffing, Marius; Moulin, Alexandre P.; Cremers, Frans P. M.; Roepman, Ronald; Arsenijevic, Yvan; Tsilimbaris, Miltiadis K.; Andreasson, Sten; Rivolta, Carlo

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

Autor(en):

Nikopoulos, Konstantinos; Farinelli, Pietro; Giangreco, Basilio; Tsika, Chrysanthi; Royer-Bertrand, Beryl; Mbefo, Martial K.; Bedoni, Nicola; Kjellstrom, Ulrika; El Zaoui, Ikram; Di Gioia, Silvio Alessandro; Balzano, Sara; Cisarova, Katarina; Messina, Andrea; Decembrini, Sarah; Plainis, Sotiris; Blazaki, Styliani V.; Khan, Muhammad Imran; Micheal, Shazia; Boldt, Karsten; Ueffing, Marius; Moulin, Alexandre P.; Cremers, Frans P. M.; Roepman, Ronald; Arsenijevic, Yvan; Tsilimbaris, Miltiadis K.; Andreasson, Sten; Rivolta, Carlo

Tübinger Autor(en):

Boldt, Karsten
Ueffing, Marius

Erschienen in:

American Journal of Human Genetics (2016), Bd. 99, H. 3, S. 770-776

Verlagsangabe:

Cell Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.ajhg.2016.07.009

ISSN:

1537-6605