(Q30953162)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12827453%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12827453%20AND%20SRC:MED&resulttype=core&format=json

hereditary optic neuropathy

5 November 2019

main subject

Indonesia

0 references

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12827453%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

Tomoki Nishioka

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12827453%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Mamoru Tasaki

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12827453%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Augustinus Soemantri

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12827453%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Marbaniati Dyat

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12827453%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J C Susanto

5

1 reference

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5 November 2019

Bambang Sudarmanto

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12827453%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Takafumi Ishida

8

1 reference

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5 November 2019

publication date

24 June 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12827453%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

5 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12827453%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

48

1 reference

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5 November 2019

issue

7

1 reference

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5 November 2019

page(s)

385-389

1 reference

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

5 November 2019

cites work

1 reference

12 December 2020

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Sequence and organization of the human mitochondrial genome

1 reference

12 December 2020

Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy

1 reference

12 December 2020

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

1 reference

12 December 2020

Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations

1 reference

12 December 2020

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Purification of genomic DNA from human whole blood by isopropanol-fractionation with concentrated Nal and SDS.

1 reference

12 December 2020

Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations

1 reference

12 December 2020

Quantitative determination of heteroplasmy in Leber's hereditary optic neuropathy by single-strand conformation polymorphism

1 reference

12 December 2020

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation

1 reference

12 December 2020

Cytochrome c oxidase mutations in Leber hereditary optic neuropathy

1 reference

12 December 2020

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

1 reference

12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Phylogenetic analysis of mtDNA haplogroup TJ in a Finnish population

1 reference

12 December 2020

Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees

1 reference

12 December 2020

Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation

1 reference

12 December 2020

Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy

1 reference

12 December 2020

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

1 reference

12 December 2020

Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.

1 reference

12 December 2020

Heteroplasmy in Leber's hereditary optic neuropathy

1 reference

12 December 2020