Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene. - Wikidata - wikimedia - TriplyDB

Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

http://www.wikidata.org/entity/Q35266591

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Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation A 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 Dementia Clinical 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 disease Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA Mitochondrial 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

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P2860

Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

http://www.wikidata.org/entity/Q35266591

description

2000 nî lūn-bûn

@nan

2000 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

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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2000年論文

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2000年論文

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2000年论文

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name

Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

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Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

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Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

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Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

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Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

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Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

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Archives of Disease in Childhood

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Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

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P2860

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects.

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome

Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.

Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics.

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

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12518833

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10799437

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1718342

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