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, Preising, Markus, Lorenz, Birgit, Sander, Birgit, Larsen, Michael
, Eckstein, Christoph and Rosenberg, Thomas
(2010)
LACK OF AUTOFLUORESCENCE IN FUNDUS ALBIPUNCTATUS ASSOCIATED WITH MUTATIONS IN RDH5.
Retina 30 (10), pp. 1704-1713.
Fulltext not available.
, 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
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.
Fulltext not available.
, Baumann, Britta, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Vadalà, Maria, Jacobson, Samuel G.
and Wissinger, Bernd
(2002)
Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia.
The American Journal of Human Genetics 71 (2), pp. 422-425.
Fulltext not available.
, 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. and Kohl, Susanne
(2001)
CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders.
The American Journal of Human Genetics 69 (4), pp. 722-737.
Fulltext not available.
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