Usher syndrome in Denmark: mutation spectrum and some clinical observations

BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness‐blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. METHODS: Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic m...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Dad, Shzeena, Rendtorff, Nanna Dahl, Tranebjærg, Lisbeth, Grønskov, Karen, Karstensen, Helena Gásdal, Brox, Vigdis, Nilssen, Øivind, Roux, Anne‐Françoise, Rosenberg, Thomas, Jensen, Hanne, Møller, Lisbeth Birk
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5023938/
https://ncbi.nlm.nih.gov/pubmed/27957503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.228
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