(Q74502575)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9568930%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9568930%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

T Fujii

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9568930%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

H Hattori

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9568930%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Y Higuchi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9568930%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

M Tsuji

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9568930%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

I Mitsuyoshi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9568930%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

publication date

1 March 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9568930%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9568930%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9568930%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9568930%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

275-277

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9568930%20AND%20SRC:MED&resulttype=core&format=json

Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2897%2900187-2

7 January 2021

Letter: Biochemical abnormalities in Leigh's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2897%2900187-2

7 January 2021

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2897%2900187-2

7 January 2021

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2897%2900187-2

7 January 2021

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2897%2900187-2

7 January 2021

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2897%2900187-2

7 January 2021

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2897%2900187-2

7 January 2021

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2897%2900187-2

7 January 2021

10.1016/S0887-8994(97)00187-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9568930%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference