دورية أكاديمية
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene
| العنوان: | A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene |
|---|---|
| المؤلفون: | Chang, Bo, Grau, Tanja, Dangel, Susann, Hurd, Ron, Jurklies, Bernhard, Sener, E. Cumhur, Andréasson, Sten, Dollfus, Helene, Baumann, Britta, Bolz, Sylvia, Artemyev, Nikolai, Kohl, Susanne, Heckenlively, John, Wissinger, Bernd |
| المصدر: | Proceedings of the National Academy of Sciences; 106(46), pp 19581-19586 (2009) ; ISSN: 1091-6490 |
| بيانات النشر: | National Academy of Sciences |
| سنة النشر: | 2009 |
| المجموعة: | Lund University Publications (LUP) |
| مصطلحات موضوعية: | Ophthalmology, phosphodiesterase, cone photoreceptor, hereditary retinal disorder |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://lup.lub.lu.se/record/1517941Test; http://dx.doi.org/10.1073/pnas.0907720106Test; wos:000271907400064; scopus:73349130033 |
| DOI: | 10.1073/pnas.0907720106 |
| الإتاحة: | https://doi.org/10.1073/pnas.0907720106Test https://lup.lub.lu.se/record/1517941Test |
| رقم الانضمام: | edsbas.E695D7B9 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1073/pnas.0907720106 |
|---|