Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa

PURPOSE: To identify and functionally characterize the mutation responsible for autosomal dominant retinitis pigmentosa (adRP) in a large, six-generation French family. METHODS: Twenty individuals from this family participated in the genetic investigation. Six affected and 14 unaffected individuals...

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Main Authors: Maubaret, Cécilia, Kosmaoglou, Maria, Low, Sancy, Chakarova, Christina F., Bidot, Samuel, Thauvin-Robinet, Christel, Robson, Anthony G., Waseem, Naushin, Cheetham, Michael E., Bhattacharya, Shomi S.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2012
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3298422/
https://ncbi.nlm.nih.gov/pubmed/22419850
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