(Q48142349)

9 February 2018

title

eOPA1: an online database for OPA1 mutations. (English)

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9 February 2018

0 references

1 reference

Marc Ferré

1

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Pascal Reynier

object named as

Pascal Reynier

5

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Patrizia Amati-Bonneau

2

object named as

Patrizia Amati-Bonneau

1 reference

9 February 2018

author name string

Yves Tourmen

3

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9 February 2018

Yves Malthièry

4

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9 February 2018

publication date

1 May 2005

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9 February 2018

published in

Human Mutation

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9 February 2018

volume

25

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9 February 2018

issue

5

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9 February 2018

page(s)

423-428

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9 February 2018

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

Mutation spectrum and splicing variants in the OPA1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

Standardizing mutation nomenclature: why bother?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

7 January 2021

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

7 January 2021

Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

7 January 2021

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

7 January 2021

A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

7 January 2021

OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20161

7 January 2021

Identifiers

DOI

10.1002/HUMU.20161

1 reference

9 February 2018

PubMed ID

15832306

1 reference

9 February 2018