Lanean...
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...
Gorde:
| Argitaratua izan da: | Medicine (Baltimore) |
|---|---|
| Egile Nagusiak: | , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Wolters Kluwer Health
2018
|
| Gaiak: | |
| Sarrera elektronikoa: | 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 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|