(Q64048994)

English

Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations

scientific article published on 01 July 2002

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scholarly article

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11 November 2019

Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations (English)

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12150954%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

hereditary optic neuropathy

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Sascha Fauser

1

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11 November 2019

Janina Luberichs

2

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11 November 2019

Dorothea Besch

3

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11 November 2019

Beate Leo-Kottler

4

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publication date

1 July 2002

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11 November 2019

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6

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Biochemical and Biophysical Research Communications

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11 November 2019

295

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11 November 2019

2

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11 November 2019

342-347

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11 November 2019

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Leber's hereditary optic neuropathy. New genetic considerations

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Sequence and organization of the human mitochondrial genome

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

MITOMAP: a human mitochondrial genome database--1998 update

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Cytochrome b mutations in Leber hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Characterization of the mitochondrial DNA in patients with multiple sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

[Leber optic neuropathy with clinical improvement]

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Heteroplasmy in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2900672-1

7 January 2021

Identifiers

10.1016/S0006-291X(02)00672-1

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12150954%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12150954%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

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