Ontology highlight
ABSTRACT:
SUBMITTER: Dad S
PROVIDER: S-EPMC5023938 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Dad Shzeena S Rendtorff Nanna Dahl ND Tranebjærg Lisbeth L Grønskov Karen K Karstensen Helena Gásdal HG Brox Vigdis V Nilssen Øivind Ø Roux Anne-Françoise AF Rosenberg Thomas T Jensen Hanne H Møller Lisbeth Birk LB
Molecular genetics & genomic medicine 20160628 5
<h4>Background</h4>Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3.<h4>Methods</h4>Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods.<h4>Results</h4>Before Next Generation Sequencing (NGS) became available mutations in nine individuals (1 USH1, 7 USH2, 1 USH3) were identified by Sanger sequencing of <i>USH1C</i> ...[more]