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

Posted by on May 30, 2018 5:29 pm
Categories: Top News

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.

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