Ontology highlight
ABSTRACT:
SUBMITTER: Charlesworth G
PROVIDER: S-EPMC3516598 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
American journal of human genetics 20121129 6
In this study, we combined linkage analysis with whole-exome sequencing of two individuals to identify candidate causal variants in a moderately-sized UK kindred exhibiting autosomal-dominant inheritance of craniocervical dystonia. Subsequent screening of these candidate causal variants in a large number of familial and sporadic cases of cervical dystonia led to the identification of a total of six putatively pathogenic mutations in ANO3, a gene encoding a predicted Ca(2+)-gated chloride channel ...[more]