• Citations Per Year
Learn More
PURPOSE To elucidate the molecular genetic defect of X-linked congenital nystagmus in a Chinese family. METHODS 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(More)
OBJECTIVE To determine the mutations pattern of the genes of a collodion baby. METHODS Collodion baby is a genetic heterogeneous disease caused by mutations of several genes. Since the most common mutations were observed in TGM1 gene, this gene was chosen for mutation screening. The screening was carried out by PCR and direct sequencing. The allele(More)
  • 1