(Q57943560)

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Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNALeu A to G mutation11The authors have no proprietary interest in the development or marketing of any device or medica

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8 December 2019

Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation (English)

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8 December 2019

mitochondrial DNA

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Andrew Tym Hattersley

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Andrew T Hattersley

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Smith PR

1

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8 December 2019

Bain SC

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8 December 2019

Good PA

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8 December 2019

Hattersley AT

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8 December 2019

Barnett AH

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8 December 2019

Gibson JM

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8 December 2019

Dodson PM

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8 December 2019

publication date

1 June 1999

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8 December 2019

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8 December 2019

106

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8 December 2019

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8 December 2019

1101-1108

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8 December 2019

Sequence and organization of the human mitochondrial genome

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

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Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

The negative coincidence of retinitis pigmentosa and proliferative diabetic retinopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Extraction of high quality genomic DNA from microsamples of human blood

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

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Standard for clinical electroretinography. International Standardization Committee

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

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Macular pattern dystrophy associated with a mutation of mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Extra-pancreatic manifestations in diabetes secondary to mitochondrial DNA point mutation within the tRNALeu(UUR) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

The retinal manifestations of mitochondrial myopathy. A study of 22 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Retinal pathology in the Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Diseases of the mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

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Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Maternally inherited diabetes and deafness: a new diabetes subtype

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2990244-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0161-6420(99)90244-0

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8 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10366077%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

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