Loading...
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...
Na minha lista:
| Udgivet i: | Medicine (Baltimore) |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Wolters Kluwer Health
2018
|
| Fag: | |
| Online adgang: | 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 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|