A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

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A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

Author: Kohl, Susanne; Llavona, Pablo; Sauer, Alexandra; Reuter, Peggy; Weisschuh, Nicole; Kempf, Melanie; Dehmelt, Florian Alexander; Arrenberg, Aristides B.; Sliesoraityte, Ieva; Zrenner, Eberhart; van Schooneveld, Mary J.; Rudolph, Gunther; Kuhlewein, Laura; Wissinger, Bernd
Tübinger Autor(en):
Kohl, Susanne
Sauer, Alexandra
Reuter, Peggy
Weisschuh, Nicole
Kempf, Melanie
Sliesoraityte, Ieva
Zrenner, Eberhart
Wissinger, Bernd
Llavona Juez, Pablo
Dehmelt, Florian A.
Arrenberg, Aristides
Kühlewein, Laura
Published in: Human Molecular Genetics (2021), Bd. 30, H. 13, S. 1218-1229
Verlagsangabe: Oxford Univ Press
Language: English
Full text: http://dx.doi.org/10.1093/hmg/ddab117
ISSN: 1460-2083
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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