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Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy

PURPOSE: With advances in phenotyping tools and availability of molecular characterization, an increasing number of phenotypically and genotypically diverse inherited corneal dystrophies are described. We aimed to determine the underlying causative genetic mechanism in a three-generation pedigree af...

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Detalhes bibliográficos
Main Authors: Vincent, Andrea L., Markie, David M., De Karolyi, Betina, Wheeldon, Catherine E., Patel, Dipika V., Grupcheva, Christina N., McGhee, Charles N.J.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2731832/
https://ncbi.nlm.nih.gov/pubmed/19710953
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