Association of a novel intronic variant in RPGR with hypomorphic phenotype of x-linked retinitis pigmentosa
<p><strong>Importance:</strong> 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.</p> <p><strong>Objective:</strong>...
| Autori principali: | , , , , , |
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| Natura: | Journal article |
| Lingua: | English |
| Pubblicazione: |
American Medical Association (AMA)
2020
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