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K

Kohl, Susanne and Varsanyi, B. and Antunes, G. A and Baumann, B. and Hoyng, C. B. and Jagle, H. and Rosenberg, T. and Kellner, U. and Lorenz, Birgit and Salati, R. and Jurklies, B. and Farkas, A. and Andreasson, S. and Weleber, R. G. and Jacobson, S. G. and Rudolph, G. and Castellan, C. and Dollfus, H. and Legius, E. and Anastasi, M. and Bitoun, P. and Lev, D. and Sieving, P. A. and Munier, F. L. and Zrenner, E. and Sharpe, L. T. and Cremers, F. P..M. and Wissinger, Bernd (2005) CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. EUROPEAN JOURNAL OF HUMAN GENETICS, 13 (3). pp. 302-308. ISSN 1018-4813

S

Strom, Tim M. and Nyakatura, Gerald and Apfelstedt-Sylla, Eckart and Hellebrand, Heide and Lorenz, Birgit and Weber, Bernhard H. F. and Wutz, Krisztina and Gutwillinger, Nadja and Rüther, Klaus and Drescher, Bernd and Sauer, Christian and Zrenner, Eberhart and Meitinger, Thomas and Rosenthal, Andre and Meindl, Alfons (1998) An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. NATURE GENETICS, 19 (3). pp. 260-263. ISSN 1061-4036, 1546-1718

W

Wutz, Krisztina and Sauer, Christian and Zrenner, Eberhart and Lorenz, Birgit and Alitalo, Tiina and Broghammer, Martina and Hergersberg, Martin and de La Chapelle, Albert and Weber, Bernhard H. F. and Wissinger, Bernd and Meindl, Alfons and Pusch, Carsten M. (2002) Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. EUROPEAN JOURNAL OF HUMAN GENETICS, 10 (8). pp. 449-456. ISSN 1018-4813