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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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Detalles Bibliográficos
Autores principales:	Cai, Xue-Bi, Huang, Xiu-Feng, Tong, Yi, Lu, Qin-Kang, Jin, Zi-Bing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5064415/ https://www.ncbi.nlm.nih.gov/pubmed/27739455 http://dx.doi.org/10.1038/srep35360

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