Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome (Q70506662)

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11 October 2019

title

Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome (English)

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11 October 2019

author name string

S M Bernes

1

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11 October 2019

C Bacino

2

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11 October 2019

T R Prezant

3

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11 October 2019

M A Pearson

4

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11 October 2019

T S Wood

5

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11 October 2019

P Fournier

6

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11 October 2019

N Fischel-Ghodsian

7

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11 October 2019

language of work or name

English

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publication date

1 October 1993

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The Journal of Pediatrics

11 October 2019

published in

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11 October 2019

volume

123

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11 October 2019

issue

4

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11 October 2019

page(s)

598-602

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Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

11 October 2019

cites work

1 reference

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Heteroplasmy in chronic external ophthalmoplegia: clinical and molecular observations

7 January 2021

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mtDNA deletions in Kearns-Sayre

7 January 2021

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Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome

7 January 2021

1 reference

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Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

7 January 2021

1 reference

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Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non-invasive diagnosis of mitochondrial myopathy

7 January 2021

1 reference

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Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

7 January 2021

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Deletion in Blood Mitochondrial DNA in Kearns-Sayre Syndrome

7 January 2021

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

7 January 2021

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Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

7 January 2021

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Unequal partitioning of bovine mitochondrial genotypes among siblings

7 January 2021

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Isolation and properties of cytochrome c oxidase from rat liver and quantification of immunological differences between isozymes from various rat tissues with subunit-specific antisera

7 January 2021

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Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency

7 January 2021

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Switching of bovine cytochromecoxidase subunit VIa isoforms in skeletal muscle during development

7 January 2021

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10.1016/S0022-3476(05)80962-X

7 January 2021

Identifiers

DOI

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11 October 2019

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