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Usher syndrome in Denmark: mutation Spectrum and some clinical observations
(Journal article; Tidsskriftartikkel; Peer reviewed, 2016-05-12)
Background:<br>
Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome,
divided into three clinical subtypes: USH1, USH2 and USH3.<br>
Methods:<br>
Mutations in 21 out of 26 investigated Danish unrelated individuals with USH
were identified, using a combination of molecular diagnostic methods.<br>
Results:<br>
Before Next Generation Sequencing (NGS) became available ...