Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
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| Title: | Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. |
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| Authors: | Preising MN; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany., Görg B; Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Friedburg C; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany., Qvartskhava N; Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Budde BS; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Bonus M; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Toliat MR; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Pfleger C; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Herebian D; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Beyer M; Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Zöllner HJ; Institute of Clinical Neuroscience and Medical Psychology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Wittsack HJ; Department of Diagnostic and Interventional Radiology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Schaper J; Department of Diagnostic and Interventional Radiology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Klee D; Department of Diagnostic and Interventional Radiology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Zechner U; Senckenberg Centre for Human Genetics, Frankfurt on the Main, Germany.; Institute of Human Genetics, Mainz University Medical Center, Mainz, Germany., Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Schipper J; Klinik für Hals-Nasen-Ohren Heilkunde, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Schnitzler A; Institute of Clinical Neuroscience and Medical Psychology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Gohlke H; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; John von Neumann Institute for Computing (NIC)-Jülich Supercomputing Centre (JSC)-Structural Biochemistry, Institute of Complex Systems (ICS 6), Research Centre Jülich, Jülich, Germany., Lorenz B; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany., Häussinger D; Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Bolz HJ; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Senckenberg Centre for Human Genetics, Frankfurt on the Main, Germany. |
| Source: | FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2019 Oct; Vol. 33 (10), pp. 11507-11527. Date of Electronic Publication: 2019 Jul 25. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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