A Dominant Mutation in Hexokinase 1 (HK1) Causes Retinitis Pigmentosa

PURPOSE. To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant retinitis pigmentosa (adRP). METHODS. A series of strategies, including candidate gene screening, linkage exclusion, genome-wide linkage mapping, and whole-exome n...

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Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Sullivan, Lori S., Koboldt, Daniel C., Bowne, Sara J., Lang, Steven, Blanton, Susan H., Cadena, Elizabeth, Avery, Cheryl E., Lewis, Richard A., Webb-Jones, Kaylie, Wheaton, Dianna H., Birch, David G., Coussa, Razck, Ren, Huanan, Lopez, Irma, Chakarova, Christina, Koenekoop, Robert K., Garcia, Charles A., Fulton, Robert S., Wilson, Richard K., Weinstock, George M., Daiger, Stephen P.
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2014
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4224580/
https://ncbi.nlm.nih.gov/pubmed/25190649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.14-15419
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