X-Chromosome Inactivation is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa

PURPOSE: X-linked retinitis pigmentosa can manifest in female carriers with widely variable severity, while others remain unaffected. The contribution of X-chromosome inactivation (XCI) to phenotypic variation has been postulated but not demonstrated. Furthermore, the impact of genotype and genetic...

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Vydáno v:Ophthalmol Retina
Hlavní autoři: Fahim, Abigail T., Sullivan, Lori S., Bowne, Sara J., Jones, Kaylie D., Wheaton, Dianna K.H., Khan, Naheed W., Heckenlively, John R., Jayasundera, K. Thiran, Branham, Kari H., Andrews, Chris A., Othman, Mohammad I., Karoukis, Athanasios J., Birch, David G., Daiger, Stephen P.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7211129/
https://ncbi.nlm.nih.gov/pubmed/31953110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.oret.2019.11.010
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