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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...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | 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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