Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.
about
Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type IIdentification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndromeMolecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts.
P2860
Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Deficiency of the E1 beta subu ...... ith maple syrup urine disease.
@en
type
label
Deficiency of the E1 beta subu ...... ith maple syrup urine disease.
@en
prefLabel
Deficiency of the E1 beta subu ...... ith maple syrup urine disease.
@en
P2093
P1476
Deficiency of the E1 beta subu ...... ith maple syrup urine disease.
@en
P2093
H Mitsubuchi
Y Hayashida
P304
P356
10.1016/0925-4439(94)90013-2
P577
1994-02-01T00:00:00Z