Phenotypic variability in a family with a mitochondrial DNA T8993C mutation (Q48341841)

10 February 2018

title

Phenotypic variability in a family with a mitochondrial DNA T8993C mutation (English)

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10 February 2018

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7

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10 February 2018

author name string

Suzuki Y

1

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10 February 2018

Wada T

2

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10 February 2018

Sakai T

3

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10 February 2018

Ishikawa Y

4

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10 February 2018

Minami R

5

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10 February 2018

Tachi N

6

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10 February 2018

publication date

1 October 1998

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10 February 2018

published in

Pediatric Neurology

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10 February 2018

volume

19

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10 February 2018

issue

4

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10 February 2018

page(s)

283-286

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10 February 2018

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900070-8

7 January 2021

Mitochondrial DNA mutation and Leigh's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900070-8

7 January 2021

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

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https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900070-8

7 January 2021

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900070-8

7 January 2021

Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene

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https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900070-8

7 January 2021

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900070-8

7 January 2021

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900070-8

7 January 2021

Use of neuropathological tissue for molecular genetic studies: parameters affecting DNA extraction and polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900070-8

7 January 2021

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900070-8

7 January 2021

Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900070-8

7 January 2021

Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2898%2900070-8

7 January 2021

10.1016/S0887-8994(98)00070-8

Identifiers

DOI

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10 February 2018

release_6vifmuwphve67fhsx32oatpyi4

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/6vifmuwphve67fhsx32oatpyi4

24 November 2022

mapped directly with Wikidata item

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10 February 2018