North Carolina Macular Dystrophy is caused by dysregulation of the retinal transcription factor PRDM13

PURPOSE: To identify specific mutations causing North Carolina Macular Dystrophy (NCMD). STUDY DESIGN: Whole genome sequencing coupled with RT-PCR analysis of gene expression in human retinal cells. SUBJECTS: 141 members of 12 families with NCMD and 261 unrelated control individuals. METHODS: Genome...

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Publicado en:Ophthalmology
Main Authors: Small, Kent W., DeLuca, Adam P., Whitmore, S. Scott, Rosenberg, Thomas, Silva-Garcia, Rosemary, Udar, Nitin, Puech, Bernard, Garcia, Charles A., Rice, Thomas A., Fishman, Gerald A., Héon, Elise, Folk, James C., Streb, Luan M., Haas, Christine M., Wiley, Luke A., Scheetz, Todd E., Fingert, John H., Mullins, Robert F., Tucker, Budd A., Stone, Edwin. M.
Formato: Artigo
Idioma:Inglês
Publicado: 2015
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4695238/
https://ncbi.nlm.nih.gov/pubmed/26507665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ophtha.2015.10.006
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