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>...
| Үндсэн зохиолчид: | , , , , , |
|---|---|
| Формат: | Journal article |
| Хэл сонгох: | English |
| Хэвлэсэн: |
American Medical Association (AMA)
2020
|