Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy (Q43146795)

14 November 2017

Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734726

11 November 2022

author name string

N. Howell

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734726

11 November 2022

D. McCullough

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734726

11 November 2022

I. Bodis-Wollner

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734726

11 November 2022

language of work or name

English

0 references

publication date

1 February 1992

1 reference

PMCID

1682448

full work available at URL

14 November 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1734726/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734726

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1734726/pdf/?tool=EBI

11 November 2022

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734726

https://europepmc.org/articles/PMC1682448

11 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734726

https://europepmc.org/articles/PMC1682448?pdf=render

11 November 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1734726

American Journal of Human Genetics

11 November 2022

published in

1 reference

14 November 2017

50

1 reference

14 November 2017

443-446

1 reference

14 November 2017

2

1 reference

LEBER'S DISEASE IN THE NETHERLANDS.

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682448

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682448

Does sporadic Leber's disease exist?

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682448

Rapid segregation of heteroplasmic bovine mitochondria

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682448

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682448

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682448

Variable genotype of Leber's hereditary optic neuropathy patients.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682448

An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682448

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682448

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682448

Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682448

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682448

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682448

A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy

25 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1734726

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1734726

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The clinical findings in Leber's hereditary optic neuroretinopathy. Leber's disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1734726

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMCID

1682448

1 reference

14 November 2017

1 reference

PMCID

1682448