Clinical genetics
DBR1 Gene Mutation: Pathogenicity in the Homozygous State and Its Phenotype in Two Siblings.
Aiman Shawli, Hanan Aljedani, Jomanah Mazi, Dalia Felemban, Sarah Aljemaey
Published: 202510.1111/cge.70123
Abstract
The RNA lariat debranching enzyme (DBR1) facilitates the hydrolysis of 2'-5' prime branched phosphodiester bonds. It acts on the bonds at the junction of excised lariat intron RNA, converting them into linear molecules for degradation. Mutations in t…
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