טוען...
Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa
IMPORTANCE: Pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR) gene typically lead to a severe form of X-linked retinitis pigmentosa, which is associated with early severe vision loss. OBJECTIVE: To investigate an X-linked retinal degeneration family with atypical preservation of vi...
שמור ב:
| הוצא לאור ב: | JAMA Ophthalmol |
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| Main Authors: | , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
American Medical Association
2020
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7516822/ https://ncbi.nlm.nih.gov/pubmed/32970112 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2020.3634 |
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