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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Bibliografske podrobnosti
izdano v:Ophthalmol Retina
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: 2019
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Article
Online dostop: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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