Phenotypic Characterization of a Large Family With RP10 Autosomal-Dominant Retinitis Pigmentosa: An Asp226Asn Mutation in the IMPDH1 Gene

PURPOSE: To evaluate the clinical features associated with the RP10 form of autosomal-dominant retinitis pigmentosa in 11 affected members of various ages from one family with a defined IMPDH1 mutation (Asp226Asn). DESIGN: Prospective, observational case series. METHODS: Visual function assessment i...

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Hauptverfasser: KOZMA, PETRA, HUGHBANKS-WHEATON, DIANNA K., LOCKE, KIRSTEN G., FISH, GARRY E., GIRE, ANISA I., SPELLICY, CATHERINE J., SULLIVAN, LORI S., BOWNE, SARA J., DAIGER, STEPHEN P., BIRCH, DAVID G.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2005
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2771559/
https://ncbi.nlm.nih.gov/pubmed/16214101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajo.2005.05.027
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