Kohl, Susanne 
; Varsanyi, Balazs ; Antunes, Gesine Abadin ; Baumann, Britta ; Hoyng, Carel B ; Jägle, Herbert ; Rosenberg, Thomas ; Kellner, Ulrich ; Lorenz, Birgit ; Salati, Roberto ; Jurklies, Bernhard ; Farkas, Agnes ; Andreasson, Sten ; Weleber, Richard G ; Jacobson, Samuel G ; Rudolph, Günther ; Castellan, Claudio ; Dollfus, Helene ; Legius, Eric ; Anastasi, Mario ; Bitoun, Pierre ; Lev, Dorit ; Sieving, Paul A ; Munier, Francis L ; Zrenner, Eberhart ; Sharpe, Lindsay T ; Cremers, Frans P M ; Wissinger, Bernd
; Varsanyi, Balazs ; Antunes, Gesine Abadin ; Baumann, Britta ; Hoyng, Carel B ; Jägle, Herbert ; Rosenberg, Thomas ; Kellner, Ulrich ; Lorenz, Birgit ; Salati, Roberto ; Jurklies, Bernhard ; Farkas, Agnes ; Andreasson, Sten ; Weleber, Richard G ; Jacobson, Samuel G ; Rudolph, Günther ; Castellan, Claudio ; Dollfus, Helene ; Legius, Eric ; Anastasi, Mario ; Bitoun, Pierre ; Lev, Dorit ; Sieving, Paul A ; Munier, Francis L ; Zrenner, Eberhart ; Sharpe, Lindsay T ; Cremers, Frans P M ; Wissinger, Bernd 
Zusammenfassung
Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In ...
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