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Autor:
Schmid, Verena, Wurzel, Alexander, Wetzel, Christian H., Plössl, Karolina, Bruckmann, Astrid, Luckner, Patricia, Weber, Bernhard H. F., Friedrich, Ulrike
The RS1 gene on Xp 22.13 encodes retinoschisin which is known to directly interact with the retinal Na/K-ATPase at the photoreceptor inner segments. Pathologic mutations in RS1 cause X-linked juvenile retinoschisis (XLRS), a hereditary retinal dystro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13ad6805afb90dc0eb6de100154bc48e
https://epub.uni-regensburg.de/52701/
https://epub.uni-regensburg.de/52701/
Autor:
Schmid V; Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany., Wurzel A; Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany., Wetzel CH; Department of Psychiatry and Psychotherapy, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany., Plössl K; Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany., Bruckmann A; Institute of Biochemistry, Genetics and Microbiology, Protein Mass Spectrometry Group, University of Regensburg, Universitätsstraße 31, 93053, Regensburg, Germany., Luckner P; Institute of Biochemistry, Genetics and Microbiology, Protein Mass Spectrometry Group, University of Regensburg, Universitätsstraße 31, 93053, Regensburg, Germany., Weber BHF; Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany. bweb@klinik.uni-regensburg.de.; Institute of Clinical Human Genetics, University Hospital Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany. bweb@klinik.uni-regensburg.de., Friedrich U; Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany. ulrike.friedrich@klinik.uni-regensburg.de.
Publikováno v:
Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2022 Jul 25; Vol. 79 (8), pp. 448. Date of Electronic Publication: 2022 Jul 25.