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 CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
Article
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 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.
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| Item type | Article | ||||
| Journal or Publication Title | European Journal of Human Genetics | ||||
| Publisher | NATURE PUBLISHING GROUP | ||||
| Place of Publication | LONDON | ||||
| Volume | 13 | ||||
| Number of Issue or Book Chapter | 3 | ||||
| Page Range | pp. 302-308 | ||||
| Date | 2005 | ||||
| Date of publication | 19 Dec 2024 15:04 | ||||
| Institutions | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik | ||||
| Identification Number |
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| Keywords | GATED CATION CHANNEL; ALPHA-SUBUNIT; CONE DEGENERATION; TOTAL COLOURBLINDNESS; GENE; GNAT2; PHOTORECEPTORS; DYSTROPHY; CLONING; LOCUS; CNGB3 mutations; ACHM3 locus; achromatopsia; rod monochromacy; total colorblindness; cyclic nucleotide-gated channel | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 70873 |
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