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Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
BACKGROUND: Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive peripheral vision loss and total blindness in the late stages. The disease is c...
Gorde:
| Argitaratua izan da: | Orphanet J Rare Dis |
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| Egile Nagusiak: | , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BioMed Central
2018
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6291982/ https://ncbi.nlm.nih.gov/pubmed/30541579 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0965-5 |
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