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Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00330-z
By:
- 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;
- Genomics England Research Consortium;
- Ambrose, J. C.;
- Arumugam, P.;
- Bevers, R.;
- Bleda, M.;
- Boardman-Pretty, F.
Publication type:
Article
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 20, p. 4546, doi. 10.1093/hmg/ddw282
By:
- Bedoni, Nicola;
- Haer-Wigman, Lonneke;
- Vaclavik, Veronika;
- Tran, Viet H.;
- Farinelli, Pietro;
- Balzano, Sara;
- Royer-Bertrand, Beryl;
- El-Asrag, Mohammed E.;
- Bonny, Olivier;
- Ikonomidis, Christos;
- Litzistorf, Yan;
- Nikopoulos, Konstantinos;
- Yioti, Georgia G.;
- Stefaniotou, Maria I.;
- McKibbin, Martin;
- Booth, Adam P.;
- Ellingford, Jamie M.;
- Black, Graeme C.;
- Toomes, Carmel;
- Inglehearn, Chris F.
Publication type:
Article