Phenotypic Characterization of 3 Families With Autosomal Dominant Retinitis Pigmentosa Due to Mutations in KLHL7

OBJECTIVE: To characterize the visual phenotype caused by mutations in the BTB-Kelch protein, KLHL7, responsible for the RP42 form of autosomal dominant retinitis pigmentosa (RP). METHODS: Comprehensive ophthalmic testing included visual acuity, static visual field, kinetic visual field, dark adapto...

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Detalhes bibliográficos
Main Authors: Wen, Yuquan, Locke, Kirsten G., Klein, Martin, Bowne, Sara J., Sullivan, Lori S., Ray, Joseph W., Daiger, Stephen P., Birch, David G., Hughbanks-Wheaton, Dianna K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4106140/
https://ncbi.nlm.nih.gov/pubmed/22084217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archophthalmol.2011.307
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