Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

Retinal dystrophies are an overlapping group of genetically heterogeneous conditions resulting from mutations in more than 250 genes. Here we describe five families affected by an adult-onset retinal dystrophy with early macular involvement and associated central visual loss in the third or fourth d...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: El-Asrag, Mohammed E., Sergouniotis, Panagiotis I., McKibbin, Martin, Plagnol, Vincent, Sheridan, Eamonn, Waseem, Naushin, Abdelhamed, Zakia, McKeefry, Declan, Van Schil, Kristof, Poulter, James A., Johnson, Colin A., Carr, Ian M., Leroy, Bart P., De Baere, Elfride, Inglehearn, Chris F., Webster, Andrew R., Toomes, Carmel, Ali, Manir
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4457961/
https://ncbi.nlm.nih.gov/pubmed/25983245
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.04.006
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