A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon.
about
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolismComplex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissuesA novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome.Advances in the understanding of Barth syndrome.Compensatory signals associated with the activation of human GC 5' splice sitesDeep intronic mutations and human disease.A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth SyndromeSplicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.
P2860
Q24317315-6967CF0B-BA32-4C71-A9C8-673CAFC03B61Q28289152-C1440669-B951-4804-A418-50DC2BCD6289Q37690004-7107C0E5-5F01-4A36-BECD-20D5BA8F4A71Q38083725-F93953FF-B0C1-428D-B792-2F450F408996Q38319037-2979BDDC-F4D1-4822-9C0C-F62B778B59E4Q39301532-AC234E6A-2871-43FE-BF26-8DA03DF24C74Q41770047-1276D626-2E6F-4DEB-85BC-6022B2F61692Q44292872-590A673B-75B4-48CE-A8BB-87A21FAE6019Q47989702-8079AE0E-E081-4FF1-8D30-6A6FCA01C7ACQ54795118-2C89E8BC-7667-4E20-BEB9-3F0A664EE904
P2860
A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
2001年论文
@zh
2001年论文
@zh-cn
name
A novel intronic mutation of t ...... ongation of the upstream exon.
@en
type
label
A novel intronic mutation of t ...... ongation of the upstream exon.
@en
prefLabel
A novel intronic mutation of t ...... ongation of the upstream exon.
@en
P2093
P1433
P1476
A novel intronic mutation of t ...... ongation of the upstream exon.
@en
P2093
Fujiwara I
Katsushima Y
Miyabayashi S
Sakamoto O
P2888
P304
P356
10.1007/S00439-001-0612-3
P577
2001-10-13T00:00:00Z
P6179
1029096983