A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.

doi:10.1016/0006-291x(91)91489-y

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Article

A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.

Biochemical and biophysical research communications - 31 Jan 1991

Fisher C W, Lau K S, Fisher C R, Wynn R M, Cox R P, Chuang D T

Abstract excerpt

We have amplified the cDNA for the transacylase (E2) subunit of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex from a thiamine-responsive MSUD cell line (WG-34) by the polymerase chain reaction. Sequencing of the amplified WG-34 cDNA showed a 17-bp insertion (AAATACCTTGTTACCAG) a...

Topics

Acyltransferases
Antisense Elements (Genetics)
Base Composition
Base Sequence
Cell Line
Cysteine
DNA Transposable Elements
Exons
Fibroblasts
Humans
Maple Syrup Urine Disease
Molecular Sequence Data
Mutation
Phenylalanine
Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 1847055
DOI: 10.1016/0006-291x(91)91489-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1847055-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Reference Values

Thiamine