A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Susanne Kohl(STZ eyetrial), Frauke Coppieters(Ghent University Hospital), Françoise Meire(Queen Fabiola Children's University Hospital), Simone Schaich(STZ eyetrial), Susanne Roosing(Radboud University Nijmegen), Christina Brennenstuhl(University of Tübingen), Sylvia Bolz(STZ eyetrial), Maria M. van Genderen(Bartiméus), Frans C. C. Riemslag(Bartiméus), Robert Łukowski(University of Tübingen), Anneke I. den Hollander(Radboud University Nijmegen), Frans P.M. Cremers(Radboud University Nijmegen), Elfride De Baere(Ghent University Hospital), Carel B. Hoyng(Radboud University Nijmegen), Bernd Wissinger(STZ eyetrial)
The American Journal of Human Genetics
August 16, 2012
Cited by 184Open Access
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