Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene dis
about
Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the diCarbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicingOccurrence 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 mutationsE2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.Maple syrup urine disease: clinical and biochemical significance of gene analysis.
P2860
Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene dis
description
1991 nî lūn-bûn
@nan
1991 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Maple syrup urine disease caus ...... f an intron of the E2 gene dis
@nl
type
label
Maple syrup urine disease caus ...... f an intron of the E2 gene dis
@nl
prefLabel
Maple syrup urine disease caus ...... f an intron of the E2 gene dis
@nl
P2093
P2860
P356
P1476
Maple syrup urine disease caus ...... sensus sequence in this region
@en
P2093
P2860
P304
P356
10.1172/JCI115120
P407
P577
1991-04-01T00:00:00Z