Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs

PURPOSE: Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene. To establish the mutational spectrum and to assess effects of selected deep intronic and common genetic variants on disease, we performe...

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Publicado en:Invest Ophthalmol Vis Sci
Autores principales: Schulz, Heidi L., Grassmann, Felix, Kellner, Ulrich, Spital, Georg, Rüther, Klaus, Jägle, Herbert, Hufendiek, Karsten, Rating, Philipp, Huchzermeyer, Cord, Baier, Maria J., Weber, Bernhard H. F., Stöhr, Heidi
Formato: Artigo
Lenguaje:Inglês
Publicado: The Association for Research in Vision and Ophthalmology 2017
Materias:
Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5270621/
https://ncbi.nlm.nih.gov/pubmed/28118664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.16-19936
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