(Q34043733)

30 July 2017

0 references

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study (English)

1 reference

30 July 2017

1 reference

Rahman S

1

1 reference

30 July 2017

Poulton J

series ordinal

2

1 reference

30 July 2017

Marchington D

series ordinal

3

1 reference

30 July 2017

Suomalainen A

series ordinal

4

1 reference

30 July 2017

language of work or name

English

0 references

publication date

20 November 2000

1 reference

American Journal of Human Genetics

30 July 2017

published in

1 reference

30 July 2017

volume

68

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30 July 2017

issue

1

1 reference

30 July 2017

page(s)

238-240

1 reference

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234919

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234919

Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234919

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234919

Enhanced direct amplification of Guthrie card DNA following selective elution of PCR inhibitors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234919

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234919

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234919

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234919

MELAS: clinical features, biochemistry, and molecular genetics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234919

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234919

Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency

5 July 2018

1 reference

12 December 2020

Noninvasive diagnosis of the MELAS syndrome from blood DNA

1 reference

12 December 2020

Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

1 reference

12 December 2020

Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging

1 reference

12 December 2020

Generation of mature dendritic cells from human blood. An improved method with special regard to clinical applicability

1 reference

12 December 2020

Detection of MELAS A3243G point mutation in muscle, blood and hair follicles

1 reference

12 December 2020

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

1 reference

12 December 2020

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1086/316930

1 reference

release_3kk33q5zpbbmdgateyjk4p6rwy

30 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3kk33q5zpbbmdgateyjk4p6rwy

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1234919

1 reference

30 July 2017

1 reference