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

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.

from Latest Science News -- ScienceDaily https://ift.tt/2H4Zcnc