Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
about
Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutationA wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases.The biology of mitochondrial disease.Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation.Oxidative Stress and Mitochondrial Dysfunction in Down's Syndrome: Relevance to Aging and DementiaClinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation.Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial diseaseClinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNAMitochondrial DNA 3243A>G heteroplasmy is associated with changes in cytoskeletal protein expression and cell mechanics.Diabetes and nephrotic syndrome: Answers.Phenotypes and mitochondrial DNA substitutions in families with A3243G mutation.The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?Spontaneous event of mitochondrial DNA mutation, A3243G, found in a family of identical twins.Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.Mitochondrial Genomics: A complex field now coming of age
P2860
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P2860
Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
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2000 nî lūn-bûn
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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2000 թվականի մայիսին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
@ast
Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
@en
type
label
Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
@ast
Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
@en
prefLabel
Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
@ast
Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
@en
P2093
P2860
P356
P1476
Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
@en
P2093
P2860
P304
P356
10.1136/ADC.82.5.407
P407
P577
2000-05-01T00:00:00Z