Llwytho...
Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa
RATIONALE: Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous diseases; X-linked retinitis pigmentosa (XLRP) is the most serious type. Mutations in RP GTPase regulator (RPGR) account for over 70% of patients with XLRP. PATIENT CONCERNS: We report a Chinese family with R...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Medicine (Baltimore) |
|---|---|
| Prif Awduron: | , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Wolters Kluwer Health
2018
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6203575/ https://ncbi.nlm.nih.gov/pubmed/30313097 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000012779 |
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