Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31
about
Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.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 mutationsMaple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequencesE2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.
P2860
Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31
description
1991 nî lūn-bûn
@nan
1991 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հուլիսին 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
Regional assignment of two gen ...... gene (DBT) to chromosome 1p31
@ast
Regional assignment of two gen ...... gene (DBT) to chromosome 1p31
@en
Regional assignment of two gen ...... gene (DBT) to chromosome 1p31
@nl
type
label
Regional assignment of two gen ...... gene (DBT) to chromosome 1p31
@ast
Regional assignment of two gen ...... gene (DBT) to chromosome 1p31
@en
Regional assignment of two gen ...... gene (DBT) to chromosome 1p31
@nl
prefLabel
Regional assignment of two gen ...... gene (DBT) to chromosome 1p31
@ast
Regional assignment of two gen ...... gene (DBT) to chromosome 1p31
@en
Regional assignment of two gen ...... gene (DBT) to chromosome 1p31
@nl
P2093
P1433
P1476
Regional assignment of two gen ...... gene (DBT) to chromosome 1p31
@en
P2093
D T Chuang
J L Chuang
S M Zneimer
P407
P577
1991-07-01T00:00:00Z