Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. (Q51891859)

17 April 2018

title

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. (English)

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17 April 2018

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2

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author name string

Shintaro Yamashita

series ordinal

1

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17 April 2018

Ikuya Nonaka

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3

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Yu-Ichi Goto

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4

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17 April 2018

publication date

15 April 2008

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17 April 2018

Journal of Human Genetics

published in

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17 April 2018

volume

53

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17 April 2018

page(s)

598-606

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issue

7

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17 April 2018

https://scigraph.springernature.com/pub.10.1007/s10038-008-0289-8

exact match

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cites work

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Molecular genetics, pseudogenetics, and clinical neurology. The Robert Wartenberg Lecture.

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Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

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Detection of DNA Fragments Encompassing the Deletion Junction of Mitochondrial Genome

21 January 2018

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Deleted mitochondrial DNA in the skeletal muscle of aged individuals

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An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

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A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

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Mitochondrial disease

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High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

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Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies

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Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome.

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Analysis of mtDNA deletions in muscle by in situ hybridization

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Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

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Novel mitochondrial DNA deletion found in a renal cell carcinoma

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10.1007/S10038-008-0289-8

Identifiers

DOI

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17 April 2018

PubMed ID

18414780

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17 April 2018