Sökning: onr:"swepub:oai:lup.lub.lu.se:56c4ea46-77a5-4819-98c2-0c10951e4435" > A homologous geneti...
Fältnamn | Indikatorer | Metadata |
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000 | 02947naa a2200493 4500 | |
001 | oai:lup.lub.lu.se:56c4ea46-77a5-4819-98c2-0c10951e4435 | |
003 | SwePub | |
008 | 160401s2009 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/15179412 URI |
024 | 7 | a https://doi.org/10.1073/pnas.09077201062 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Chang, Bo4 aut |
245 | 1 0 | a A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene |
264 | c 2009-11-17 | |
264 | 1 | b Proceedings of the National Academy of Sciences,c 2009 |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Oftalmologi0 (SwePub)302172 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Ophthalmology0 (SwePub)302172 hsv//eng |
653 | a phosphodiesterase | |
653 | a cone photoreceptor | |
653 | a hereditary retinal disorder | |
700 | 1 | a Grau, Tanja4 aut |
700 | 1 | a Dangel, Susann4 aut |
700 | 1 | a Hurd, Ron4 aut |
700 | 1 | a Jurklies, Bernhard4 aut |
700 | 1 | a Sener, E. Cumhur4 aut |
700 | 1 | a Andréasson, Stenu Lund 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 Medicine4 aut0 (Swepub:lu)oft-san |
700 | 1 | a Dollfus, Helene4 aut |
700 | 1 | a Baumann, Britta4 aut |
700 | 1 | a Bolz, Sylvia4 aut |
700 | 1 | a Artemyev, Nikolai4 aut |
700 | 1 | a Kohl, Susanne4 aut |
700 | 1 | a Heckenlively, John4 aut |
700 | 1 | a Wissinger, Bernd4 aut |
710 | 2 | a Oftalmologi, Lundb Sektion IV4 org |
773 | 0 | t Proceedings of the National Academy of Sciencesd : Proceedings of the National Academy of Sciencesg 106:46, s. 19581-19586q 106:46<19581-19586x 1091-6490x 0027-8424 |
856 | 4 | u http://dx.doi.org/10.1073/pnas.0907720106x freey FULLTEXT |
856 | 4 | u http://www.pnas.org/content/106/46/19581.full.pdf |
856 | 4 8 | u https://lup.lub.lu.se/record/1517941 |
856 | 4 8 | u https://doi.org/10.1073/pnas.0907720106 |
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