Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

PURPOSE: Photoreceptor neuronal degenerations are common, incurable causes of human blindness affecting 1 in 2000 patients worldwide. Only half of all patients are associated with known mutations in over 250 disease genes, prompting our research program to identify the remaining new genes. Most reti...

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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Zhang, Alice Yang, Mysore, Naveen, Vali, Hojatollah, Koenekoop, Jamie, Cao, Sang Ni, Li, Shen, Ren, Huanan, Keser, Vafa, Lopez-Solache, Irma, Siddiqui, Sorath Noorani, Khan, Ayesha, Mui, Jeannie, Sears, Kelly, Dixon, Jim, Schwartzentruber, Jeremy, Majewski, Jacek, Braverman, Nancy, Koenekoop, Robert K.
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2015
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Retina
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4699407/
https://ncbi.nlm.nih.gov/pubmed/26720468
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.14-15751
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