CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

We recently showed that mutations in the CNGA3 gene encoding the α-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 addi...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2001
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226059/
https://ncbi.nlm.nih.gov/pubmed/11536077
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