about
Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.Defects in mitochondrial DNA replication and human diseaseThymidine kinase 2 deficiency-induced mtDNA depletion in mouse liver leads to defect β-oxidationInherited mitochondrial diseases of DNA replicationAntiretroviral nucleosides, deoxynucleotide carrier and mitochondrial DNA: evidence supporting the DNA pol gamma hypothesis.Deoxyribonucleoside kinases in mitochondrial DNA depletion.Over-expression of the catalytic core of mitochondrial DNA (mtDNA) polymerase in the nervous system of Drosophila melanogaster reduces median life span by inducing mtDNA depletion.Mitochondrial dysfunction in the pathophysiology of renal diseases.Rapid analysis of mitochondrial DNA depletion by fluorescence in situ hybridization and immunocytochemistry: potential strategies for HIV therapeutic monitoring.Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.Retrospective natural history of thymidine kinase 2 deficiency.
P2860
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P2860
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
Mutation analysis in 16 patients with mtDNA depletion.
@en
Mutation analysis in 16 patients with mtDNA depletion.
@nl
type
label
Mutation analysis in 16 patients with mtDNA depletion.
@en
Mutation analysis in 16 patients with mtDNA depletion.
@nl
prefLabel
Mutation analysis in 16 patients with mtDNA depletion.
@en
Mutation analysis in 16 patients with mtDNA depletion.
@nl
P2093
P50
P356
P1433
P1476
Mutation analysis in 16 patients with mtDNA depletion
@en
P2093
Bornstein B
Santorelli FM
Vilarinho L
de la Pena P
P304
P356
10.1002/HUMU.9135
P577
2003-04-01T00:00:00Z