(Q55038470)

16 June 2018

title

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. (English)

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16 June 2018

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3

Emma L Blakely

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16 June 2018

Patrick F. Chinnery

5

Patrick F Chinnery

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16 June 2018

Robert William Taylor

7

Robert W Taylor

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16 June 2018

Douglass Matthew Turnbull

6

Douglass M Turnbull

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16 June 2018

Andrew M Schaefer

2

Andrew M Schaefer

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16 June 2018

Robert McFarland

4

Robert McFarland

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16 June 2018

Martina T McDonnell

1

Martina T McDonnell

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16 June 2018

publication date

1 September 2004

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16 June 2018

European Journal of Human Genetics

published in

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16 June 2018

volume

12

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16 June 2018

issue

9

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16 June 2018

page(s)

778-781

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16 June 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201216

exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

The neurology of mitochondrial DNA disease.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

MELAS: clinical features, biochemistry, and molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

Mitochondrial DNA mutations in human colonic crypt stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

Recurrent strokes in a 34-year-old man

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

7 January 2021

Rapid and noninvasive screening of patients with mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201216

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201216

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16 June 2018

Dimensions Publication ID

1002768986

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16 June 2018