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Novel CHM mutations identified in Chinese families with Choroideremia
Choroideremia is a bilateral and progressive X-linked inherited disease characterized by widespread chorioretinal atrophy with relative sparing of the macular region. It is caused by mutations in the ubiquitously expressed CHM gene, which lead to the absence of the Rab escort protein 1 (REP-1), resu...
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| Veröffentlicht in: | Sci Rep |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5064415/ https://ncbi.nlm.nih.gov/pubmed/27739455 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep35360 |
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