(Q70506662)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

author name string

S M Bernes

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

C Bacino

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

T R Prezant

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

M A Pearson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

T S Wood

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

P Fournier

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

N Fischel-Ghodsian

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

language of work or name

English

0 references

publication date

1 October 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

11 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

volume

123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

page(s)

598-602

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

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

11 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

Heteroplasmy in chronic external ophthalmoplegia: clinical and molecular observations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

mtDNA deletions in Kearns-Sayre

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

Deletion in Blood Mitochondrial DNA in Kearns-Sayre Syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

Unequal partitioning of bovine mitochondrial genotypes among siblings

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980962-X

10.1016/S0022-3476(05)80962-X

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8410517%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

1 reference