Ontology highlight
ABSTRACT:
SUBMITTER: Peng Y
PROVIDER: S-EPMC2671585 | biostudies-literature | 2009
REPOSITORIES: biostudies-literature
Peng Yuanyuan Y Meng Yan Y Wang Zheng Z Qin Mei M Li Xiaoqiao X Dian Yan Y Huang Shangzhi S
Molecular vision 20090422
<h4>Purpose</h4>To elucidate the molecular genetic defect of X-linked congenital nystagmus in a Chinese family.<h4>Methods</h4>Genomic DNA was prepared from peripheral blood. We used allele-sharing analysis to identify the possible locus harboring the disease-causing gene. We screened for mutations in the G protein-coupled receptor 143 gene (GPR143) by direct sequencing of the polymerase chain reaction (PCR)-amplified exons.<h4>Results</h4>In analyzing the candidate gene, GPR143, in the linked r ...[more]