Biallelic mutation of human
<i>SLC6A6</i>
encoding the taurine transporter TAUT is linked to early retinal degeneration

Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration

Preising, Markus N.; Görg, Boris; Friedburg, Christoph; Qvartskhava, Natalia; Budde, Birgit S.; Bonus, Michele; Toliat, Mohammad R.; Pfleger, Christopher; Altmüller, Janine; Herebian, Diran; Beyer, Mila; Zöllner, Helge J.; Wittsack, Hans-Jörg; Schaper, Jörg; Klee, Dirk; Zechner, Ulrich; Nürnberg, Peter; Schipper, Jörg; Schnitzler, Alfons; Gohlke, Holger; Lorenz, Birgit; Häussinger, Dieter; Bolz, Hanno J.

期刊名称The FASEB Journal
作者Preising, Markus N.; Görg, Boris; Friedburg, Christoph; Qvartskhava, Natalia; Budde, Birgit S.; Bonus, Michele; Toliat, Mohammad R.; Pfleger, Christopher; Altmüller, Janine; Herebian, Diran; Beyer, Mila; Zöllner, Helge J.; Wittsack, Hans-Jörg; Schaper, Jörg; Klee, Dirk; Zechner, Ulrich; Nürnberg, Peter; Schipper, Jörg; Schnitzler, Alfons; Gohlke, Holger; Lorenz, Birgit; Häussinger, Dieter; Bolz, Hanno J.
印刷ISSN0892-6638
电子ISSN1530-6860
文件大小3366.67KB
发表时间2019-07-25
DOI10.1096/fj.201900914RR

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Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration