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Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants
Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are a major cause of X-linked inherited retinal disorder (IRD). We herein describe the clinical and genetic features of 14 patients from 13 Japanese families harboring RPGR variants in a nationwide cohort. Comprehensive ophthalmologic...
Kaydedildi:
| Yayımlandı: | Hum Genome Var |
|---|---|
| Asıl Yazarlar: | , , , , , , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group UK
2019
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6804603/ https://ncbi.nlm.nih.gov/pubmed/31645972 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0065-7 |
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