Wissinger, Bernd ; Gamer, Daphne ; Jägle, Herbert ; Giorda, Roberto 
; Marx, Tim ; Mayer, Simone ; Tippmann, Sabine ; Broghammer, Martina ; Jurklies, Bernhard ; Rosenberg, Thomas ; Jacobson, Samuel G. ; Sener, E. Cumhur ; Tatlipinar, Sinan ; Hoyng, Carel B. ; Castellan, Claudio ; Bitoun, Pierre ; Andreasson, Sten ; Rudolph, Günter ; Kellner, Ulrich ; Lorenz, Birgit ; Wolff, Gerhard ; Verellen-Dumoulin, Christine ; Schwartz, Marianne ; Cremers, Frans P.M. ; Apfelstedt-Sylla, Eckart ; Zrenner, Eberhart ; Salati, Roberto ; Sharpe, Lindsay T. ; Kohl, Susanne
; Marx, Tim ; Mayer, Simone ; Tippmann, Sabine ; Broghammer, Martina ; Jurklies, Bernhard ; Rosenberg, Thomas ; Jacobson, Samuel G. ; Sener, E. Cumhur ; Tatlipinar, Sinan ; Hoyng, Carel B. ; Castellan, Claudio ; Bitoun, Pierre ; Andreasson, Sten ; Rudolph, Günter ; Kellner, Ulrich ; Lorenz, Birgit ; Wolff, Gerhard ; Verellen-Dumoulin, Christine ; Schwartz, Marianne ; Cremers, Frans P.M. ; Apfelstedt-Sylla, Eckart ; Zrenner, Eberhart ; Salati, Roberto ; Sharpe, Lindsay T. ; Kohl, Susanne 
Zusammenfassung
We recently showed that mutations in the CNGA3 gene encoding the alpha -subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the results of a first comprehensive screening for CNGA3 mutations in a cohort of 258 additional independent families with hereditary cone photoreceptor disorders. CNGA3 mutations were ...
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