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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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| Publicado no: | Sci Rep |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | 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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