Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy. (Q44060092)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

0 references

Maria Lucia Valentino

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Patrizia Avoni

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Francesco Pallotti

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Valerio Carelli

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

3

Piero Barboni

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

Chiara Rengo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Antonio Torroni

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Marzio Bellan

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Agostino Baruzzi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

language of work or name

1 reference

1 June 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

774-778

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy

10 November 2019

cites work

1 reference

mtDNA mutations that cause optic neuropathy: how do we know?

21 January 2018

1 reference

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness

21 January 2018

1 reference

Sequence and organization of the human mitochondrial genome

21 January 2018

1 reference

Tracing European founder lineages in the Near Eastern mtDNA pool

21 January 2018

1 reference

Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia

21 January 2018

1 reference

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

Expression of genes from the human active and inactive X chromosomes

21 January 2018

1 reference

Chapter 4 Leber's Hereditary Optic Neuropathy

21 January 2018

1 reference

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

21 January 2018

1 reference

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

21 January 2018

1 reference

Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy

21 January 2018

1 reference

Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

Mutations in mtDNA: are we scraping the bottom of the barrel?

21 January 2018

1 reference

Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.10193

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112086%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference