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A homologous geneti...
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene
- Article/chapterEnglish2009
Publisher, publication year, extent ...
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2009-11-17
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Proceedings of the National Academy of Sciences,2009
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:56c4ea46-77a5-4819-98c2-0c10951e4435
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https://lup.lub.lu.se/record/1517941URI
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https://doi.org/10.1073/pnas.0907720106DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia. Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.
Subject headings and genre
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Grau, Tanja
(author)
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Dangel, Susann
(author)
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Hurd, Ron
(author)
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Jurklies, Bernhard
(author)
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Sener, E. Cumhur
(author)
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Andréasson, StenLund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)oft-san
(author)
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Dollfus, Helene
(author)
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Baumann, Britta
(author)
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Bolz, Sylvia
(author)
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Artemyev, Nikolai
(author)
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Kohl, Susanne
(author)
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Heckenlively, John
(author)
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Wissinger, Bernd
(author)
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Oftalmologi, LundSektion IV
(creator_code:org_t)
Related titles
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In:Proceedings of the National Academy of Sciences: Proceedings of the National Academy of Sciences106:46, s. 19581-195861091-64900027-8424
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Chang, Bo
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Grau, Tanja
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Dangel, Susann
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Hurd, Ron
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Jurklies, Bernha ...
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Sener, E. Cumhur
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Andréasson, Sten
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Dollfus, Helene
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Baumann, Britta
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Bolz, Sylvia
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Artemyev, Nikola ...
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Kohl, Susanne
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Heckenlively, Jo ...
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Wissinger, Bernd
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Ophthalmology
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Lund University