Researchers at University of California, Los Angeles have worked with a California family stricken by an extremely rare, devastating disorder that attacks the brain and spine to pinpoint the cause of the disease. The researchers used a new technique called exome sequencing, which searches only the protein-coding regions in the genome to identify disease-causing mutations. They ultimately found that a defect on a gene called exosome component 3 (EXOSC3) causes the condition, pontocerebellar...
↧