Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.
about
Structural alterations induced by ten disease-causing mutations of human dihydrolipoamide dehydrogenase analyzed by hydrogen/deuterium-exchange mass spectrometry: Implications for the structural basis of E3 deficiency.Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiencyExperience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells.Formation of reactive oxygen species by human and bacterial pyruvate and 2-oxoglutarate dehydrogenase multienzyme complexes reconstituted from recombinant components.Stimulation of reactive oxygen species generation by disease-causing mutations of lipoamide dehydrogenase
P2860
Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Identification of a common mut ...... ial effect of vitamin therapy.
@en
Identification of a common mutation
@nl
type
label
Identification of a common mut ...... ial effect of vitamin therapy.
@en
Identification of a common mutation
@nl
prefLabel
Identification of a common mut ...... ial effect of vitamin therapy.
@en
Identification of a common mutation
@nl
P2093
P1476
Identification of a common mut ...... ial effect of vitamin therapy.
@en
P2093
P304
P356
10.1023/B:BOLI.0000010004.12053.5B
P577
2003-01-01T00:00:00Z
P6179
1033207860