(Q42698605)

5 November 2017

Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect (English)

1 reference

Leber hereditary optic neuropathy

5 November 2017

1 reference

1 reference

Macmillan C

1

1 reference

5 November 2017

Johns TA

series ordinal

2

1 reference

5 November 2017

Fu K

series ordinal

3

1 reference

5 November 2017

Shoubridge EA

series ordinal

4

1 reference

5 November 2017

language of work or name

English

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publication date

1 January 2000

1 reference

American Journal of Human Genetics

5 November 2017

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5 November 2017

66

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5 November 2017

1

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5 November 2017

332-335

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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.

5 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

Polynesian mitochondrial DNAs reveal three deep maternal lineage clusters

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

Demographic history of India and mtDNA-sequence diversity.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

Sequence and organization of the human mitochondrial genome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

Human mitochondrial DNA variation and evolution: analysis of nucleotide sequences from seven individuals

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

Mitochondrial DNA sequences in single hairs from a southern African population

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

Mapping of mitochondrial DNA of individual sheep and goats: rapid evolution in the D loop region

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288340

Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA

16 August 2018

1 reference

12 December 2020

Founder effect in familial hyperchylomicronemia among French Canadians of Quebec

1 reference

12 December 2020

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

1 reference

12 December 2020

Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease

1 reference

12 December 2020

Identifiers

DOI

10.1086/302716

1 reference

5 November 2017

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5 November 2017

PubMed publication ID

10631164

1 reference