Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations

Progressive degeneration of rod and cone photoreceptors frequently is caused by mutations in the X-chromosomal gene Retinitis Pigmentosa GTPase Regulator (RPGR). Males hemizygous for a RPGR mutation often are affected by Retinitis Pigmentosa (RP), whereas female mutation carriers only occasionally p...

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Detalles Bibliográficos
Autores principales: Usman, Muhammad, Jüschke, Christoph, Song, Fei, Kastrati, Dennis, Owczarek-Lipska, Marta, Eilers, Jannis, Pauleikhoff, Laurenz, Lange, Clemens, Neidhardt, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Life Science Alliance LLC 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10403639/
https://www.ncbi.nlm.nih.gov/pubmed/37541846
http://dx.doi.org/10.26508/lsa.202201814

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10403639/
https://www.ncbi.nlm.nih.gov/pubmed/37541846
http://dx.doi.org/10.26508/lsa.202201814

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