(Q72656122)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7901141%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7901141%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

author name string

K Huoponen

1

1 reference

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28 October 2019

T Lamminen

2

1 reference

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28 October 2019

V Juvonen

3

1 reference

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28 October 2019

P Aula

4

1 reference

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28 October 2019

E Nikoskelainen

5

1 reference

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28 October 2019

M L Savontaus

6

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28 October 2019

publication date

1 October 1993

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28 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7901141%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

92

1 reference

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28 October 2019

issue

4

1 reference

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28 October 2019

page(s)

379-384

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https://scigraph.springernature.com/pub.10.1007/bf01247339

28 October 2019

exact match

0 references

cites work

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome

1 reference

12 December 2020

The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates

1 reference

12 December 2020

Sequence and organization of the human mitochondrial genome

1 reference

12 December 2020

Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Mitochondrial DNA and human evolution

1 reference

12 December 2020

Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease

1 reference

12 December 2020

Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations

1 reference

12 December 2020

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation

1 reference

12 December 2020

Sequence and gene organization of the chicken mitochondrial genome. A novel gene order in higher vertebrates

1 reference

12 December 2020

Mitochondrial ND-I mutation in Leber hereditary optic neuropathy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism

1 reference

12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy

1 reference

12 December 2020

Complete sequence of bovine mitochondrial DNA. Conserved features of the mammalian mitochondrial genome

1 reference

12 December 2020

The sequence of human mtDNA: the question of errors versus polymorphisms

1 reference

12 December 2020

Human mitochondrial DNA types in Finland

1 reference

12 December 2020

A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I

1 reference

12 December 2020

Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Cytochrome b mutations in Leber hereditary optic neuropathy

1 reference

12 December 2020

Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees

1 reference

12 December 2020

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

12 December 2020

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Mitochondrial DNA polymorphism in Japanese. I. Analysis with restriction enzymes of six base pair recognition

1 reference

12 December 2020

Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

1 reference

12 December 2020

Mitochondrial DNA polymorphism in Finnish families with Leber's hereditary optic neuroretinopathy

1 reference

12 December 2020

Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.

1 reference

12 December 2020

Sequence and gene organization of mouse mitochondrial DNA

1 reference

12 December 2020

Normal variants of human mitochondrial DNA and translation products: the building of a reference data base

1 reference

12 December 2020

The complete nucleotide sequence, gene organization, and genetic code of the mitochondrial genome of Paracentrotus lividus

1 reference

12 December 2020

Polymorphic sites and the mechanism of evolution in human mitochondrial DNA.

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01247339

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7901141%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference