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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Библиографические подробности
Опубликовано в: :Ophthalmol Retina
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: 2019
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Article
Online-ссылка: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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