Ontology highlight
ABSTRACT:
SUBMITTER: Isosomppi J
PROVIDER: S-EPMC2742642 | biostudies-literature | 2009
REPOSITORIES: biostudies-literature
Molecular vision 20090908
<h4>Purpose</h4>Mutations of clarin 1 (CLRN1) cause Usher syndrome type 3 (USH3). To determine the effects of USH3 mutations on CLRN1 function, we examined the cellular distribution and stability of both normal and mutant CLRN1 in vitro. We also searched for novel disease-causing mutations in a cohort of 59 unrelated Canadian and Finnish USH patients.<h4>Methods</h4>Mutation screening was performed by DNA sequencing. For the functional studies, wild-type (WT) and mutant CLRN1 genes were expresse ...[more]