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

The aim of this study was to investigate coenzyme Q10 (CoQ(10)) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome sequencing for molecular diagnosis of their condition. Following negative IRD gene panel an...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9581764/
https://www.ncbi.nlm.nih.gov/pubmed/36266294
http://dx.doi.org/10.1038/s41525-022-00330-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9581764/
https://www.ncbi.nlm.nih.gov/pubmed/36266294
http://dx.doi.org/10.1038/s41525-022-00330-z

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