Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

Estrada-Cuzcano, Alejandro; Neveling, Kornelia; Kohl, Susanne; Banin, Eyal; Rotenstreich, Ygal; Sharon, Dror; Falik-Zaccai, Tzipora C.; Hipp, Stephanie; Roepman, Ronald; Wissinger, Bernd; Letteboer, Stef J. F.; Mans, Dorus A.; Blokland, Ellen A. W.; Kwint, Michael P.; Gijsen, Sabine J.; van Huet, Ramon A. C.; Collin, Rob W. J.; Scheffer, H.; Veltman, Joris A.; Zrenner, Eberhart; den Hollander, Anneke I.; Klevering, B. Jeroen; Cremers, Frans P. M.

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

Autor(en):

Estrada-Cuzcano, Alejandro; Neveling, Kornelia; Kohl, Susanne; Banin, Eyal; Rotenstreich, Ygal; Sharon, Dror; Falik-Zaccai, Tzipora C.; Hipp, Stephanie; Roepman, Ronald; Wissinger, Bernd; Letteboer, Stef J. F.; Mans, Dorus A.; Blokland, Ellen A. W.; Kwint, Michael P.; Gijsen, Sabine J.; van Huet, Ramon A. C.; Collin, Rob W. J.; Scheffer, H.; Veltman, Joris A.; Zrenner, Eberhart; den Hollander, Anneke I.; Klevering, B. Jeroen; Cremers, Frans P. M.

Tübinger Autor(en):

Kohl, Susanne
Hipp, Stephanie
Wissinger, Bernd
Zrenner, Eberhart

Erschienen in:

American Journal of Human Genetics (2012), Bd. 90, H. 1, S. 102-109

Verlagsangabe:

Cell Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.ajhg.2011.11.015

ISSN:

0002-9297