From Haifa to Tokyo: Medical detectives team up on selenoprotein1/EPT1

(American Society for Biochemistry and Molecular Biology) Ordinary tests couldn't diagnose an Israeli infant's developmental disorder. Until they completed whole-exome sequencing, his doctors were stumped. After finding a homozygous rare allele, they teamed up with Japanese experts on the affected enzyme to describe its hitherto unknown role in myelination.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news