Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

The mitochondrial ribosome is critical to mitochondrial protein synthesis. Defects in both the large and small subunits of the mitochondrial ribosome can cause human disease, including, but not limited to, cardiomyopathy, hypoglycaemia, neurological dysfunction, sensorineural hearing loss and premat...

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Detalles Bibliográficos
Autores principales: Kline, Brianna L., Jaillard, Sylvie, Bell, Katrina M., Bakhshalizadeh, Shabnam, Robevska, Gorjana, van den Bergen, Jocelyn, Dulon, Jérôme, Ayers, Katie L., Christodoulou, John, Tchan, Michel C., Touraine, Philippe, Sinclair, Andrew H., Tucker, Elena J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690861/
https://www.ncbi.nlm.nih.gov/pubmed/36421788
http://dx.doi.org/10.3390/genes13112113

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690861/
https://www.ncbi.nlm.nih.gov/pubmed/36421788
http://dx.doi.org/10.3390/genes13112113

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