(Q50505206)

14 March 2018

title

Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness. (English)

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14 March 2018

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Olsson C

1

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14 March 2018

Zethelius B

2

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14 March 2018

Lagerström-Fermér M

3

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14 March 2018

Asplund J

4

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14 March 2018

Berne C

5

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14 March 2018

Landegren U

6

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14 March 2018

publication date

1 January 1998

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14 March 2018

published in

Human Mutation

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14 March 2018

volume

12

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14 March 2018

issue

1

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14 March 2018

page(s)

52-58

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14 March 2018

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

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MELAS: clinical features, biochemistry, and molecular genetics

21 January 2018

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Mitochondrial diabetes mellitus: a review

21 January 2018

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

21 January 2018

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A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

21 January 2018

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Mitochondrial diabetes mellitus: prevalence and clinical characterization of diabetes due to mitochondrial tRNA(Leu(UUR)) gene mutation in Japanese patients.

21 January 2018

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Manifold sequencing: efficient processing of large sets of sequencing reactions

21 January 2018

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Maternally inherited diabetes and deafness: a new diabetes subtype

21 January 2018

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Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome.

21 January 2018

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Mechanism of somatic mitochondrial DNA mutations associated with age and diseases

21 January 2018

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Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

21 January 2018

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UKPDS 21: low prevalence of the mitochondrial transfer RNA gene (tRNA(Leu(UUR))) mutation at position 3243bp in UK Caucasian type 2 diabetic patients.

21 January 2018

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DNA CTG triplet repeats involved in dynamic mutations of neurologically related gene sequences form stable duplexes

21 January 2018

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

21 January 2018

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Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial transfer RNA(Leu) (UUR) gene.

21 January 2018

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A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy

21 January 2018

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

21 January 2018

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Inheritance and expression of mitochondrial DNA point mutations

21 January 2018

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Mitochondrial DNA and genetic disease

21 January 2018

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Noninvasive diagnosis of the MELAS syndrome from blood DNA

21 January 2018

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Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

21 January 2018

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Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging

21 January 2018

1 reference

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Prevalence of mitochondrial gene mutations in families with diabetes mellitus

21 January 2018

1 reference

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10.1002/(SICI)1098-1004(1998)12:1<52::AID-HUMU8>3.0.CO;2-K

21 January 2018

Identifiers

DOI

1 reference

14 March 2018

1 reference

14 March 2018