Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. (Q34390564)

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6 November 2019

title

Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy (English)

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6 November 2019

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4

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6 November 2019

Giacomo P Comi

5

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6 November 2019

Rodney Rothstein

6

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6 November 2019

author name string

O Musumeci

1

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6 November 2019

A L Andreu

2

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6 November 2019

S Shanske

3

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6 November 2019

E A Schon

7

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6 November 2019

S DiMauro

8

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6 November 2019

language of work or name

English

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publication date

17 April 2000

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American Journal of Human Genetics

6 November 2019

published in

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6 November 2019

volume

66

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6 November 2019

issue

6

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6 November 2019

page(s)

1900-1904

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Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome

6 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378040

Mitochondrial DNA mutations and pathogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378040

Endonuclease G from mammalian nuclei is identical to the major endonuclease of mitochondria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378040

Primers for mitochondrial DNA replication generated by endonuclease G.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378040

Sequence and organization of the human mitochondrial genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378040

DNA flexibility studied by covalent closure of short fragments into circles

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378040

Replication of animal mitochondrial DNA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378040

Structures of homopurine-homopyrimidine tract in superhelical DNA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378040

A case of mitochondrial myopathy, lactic acidosis and complex I deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378040

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378040

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

6 July 2018

1 reference

12 December 2020

41 Analysis of human mitochondrial RNA

1 reference

12 December 2020

Identification of a 55-KDA endonuclease in rat liver mitochondria with nucleolytic properties similar to endonuclease G

1 reference

12 December 2020

Co-existence of high levels of a cytochrome b mutation and of a tandem 200 bp duplication in the D-loop of muscle human mitochondrial DNA

1 reference

12 December 2020

Analysis of the pathogenic human mitochondrial mutation ND1/3460, and mutations of strictly conserved residues in its vicinity, using the bacterium Paracoccus denitrificans

1 reference

12 December 2020

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

1 reference

12 December 2020

A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria

1 reference

12 December 2020

Inversion/dimerization of plasmids mediated by inverted repeats

1 reference

12 December 2020

Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene

1 reference

12 December 2020

Identifiers

DOI

10.1086/302927

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775530%20AND%20SRC:MED&resulttype=core&format=json

release_uqcfvka6p5dlnni7rgwvxx5w2q

6 November 2019

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/uqcfvka6p5dlnni7rgwvxx5w2q

24 November 2022

mapped directly with Wikidata item

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775530%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

PubMed publication ID

10775530

1 reference