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Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

The aim of this study was to identify and characterize the underlying molecular mechanisms in autosomal-dominant retinitis pigmentosa (adRP) with incomplete penetrance in two Swedish families. An extended genealogical study and haplotype analysis indicated a common origin. Mutation identification wa...

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Autori principali: Köhn, Linda, Bowne, Sara J, S Sullivan, Lori, Daiger, Stephen P, Burstedt, Marie SI, Kadzhaev, Konstantin, Sandgren, Ola, Golovleva, Irina
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2796252/
https://ncbi.nlm.nih.gov/pubmed/19050727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.223
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