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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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| Autori principali: | , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Molecular Vision
2012
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3298422/ https://ncbi.nlm.nih.gov/pubmed/22419850 |
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