Article
Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.
American journal of human genetics - 1 Feb 1993
Fisher C W, Fisher C R, Chuang J L, Lau K S, Chuang D T, Cox R P
Abstract excerpt
We have identified two novel mutant alleles in the transacylase (E2) gene of the human branched-chain alpha-keto acid dehydrogenase (BCKAD) complex in 6 of 38 patients with maple syrup urine disease (MSUD). One mutation, a 2-bp (AT) deletion in exon 2 of the E2 gene, causes a frameshift downstrea...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.