Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

Jurkute, Neringa; Cancellieri, Francesca; Pohl, Lisa; Li, Catherina H. Z.; Heaton, Robert A.; Reurink, Janine; Bellingham, James; Quinodoz, Mathieu; Yioti, Georgia; Stefaniotou, Maria; Weener, Marianna; Zuleger, Theresia; Haack, Tobias B.; Stingl, Katarina; Hoyng, Carel B.; Mahroo, Omar A.; Hargreaves, Iain; Raymond, F. Lucy; Michaelides, Michel; Rivolta, Carlo; Kohl, Susanne; Roosing, Susanne; Webster, Andrew R.; Arno, Gavin

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

Author:

Jurkute, Neringa; Cancellieri, Francesca; Pohl, Lisa; Li, Catherina H. Z.; Heaton, Robert A.; Reurink, Janine; Bellingham, James; Quinodoz, Mathieu; Yioti, Georgia; Stefaniotou, Maria; Weener, Marianna; Zuleger, Theresia; Haack, Tobias B.; Stingl, Katarina; Hoyng, Carel B.; Mahroo, Omar A.; Hargreaves, Iain; Raymond, F. Lucy; Michaelides, Michel; Rivolta, Carlo; Kohl, Susanne; Roosing, Susanne; Webster, Andrew R.; Arno, Gavin

Tübinger Autor(en):

Zuleger, Theresia
Stingl, Katarina
Kohl, Susanne
Pohl, Lisa Katharina
Haack, Tobias

Published in:

Npj Genomic Medicine (2022), Bd. 7 (1), Article 60

Verlagsangabe:

Nature Portfolio

Language:

English

Full text:

http://dx.doi.org/10.1038/s41525-022-00330-z

ISSN:

2056-7944