(Q40316456)

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A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.

scientific article published on 14 June 2006

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scholarly article

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29 January 2020

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment (English)

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16773128%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

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Michael Barmada

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29 January 2020

Tanya M Teslovich

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Tanya M Teslovich

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29 January 2020

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Jeffrey M Trent

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29 January 2020

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Nanna D Rendtorff

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29 January 2020

Mei Zhu

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29 January 2020

Toril Fagerheim

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29 January 2020

Torben L Antal

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29 January 2020

MaryPat Jones

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29 January 2020

Elizabeth M Gillanders

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29 January 2020

Erik Teig

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29 January 2020

Karen H Friderici

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29 January 2020

Dietrich A Stephan

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29 January 2020

Lisbeth Tranebjaerg

13

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29 January 2020

publication date

14 June 2006

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29 January 2020

European Journal of Human Genetics

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29 January 2020

14

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29 January 2020

1097-1105

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29 January 2020

10

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29 January 2020

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201670

0 references

Genetic epidemiology of hearing impairment

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

A genetic approach to understanding auditory function

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

Molecular genetics of hearing loss

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

Hereditary deafness and phenotyping in humans

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

Coexpression of a mutant beta-actin and the two normal beta- and gamma-cytoplasmic actins in a stably transformed human cell line

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

The structure of crystalline profilin-beta-actin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

A computational procedure for determining energetically favorable binding sites on biologically important macromolecules

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

Structure of gelsolin segment 1-actin complex and the mechanism of filament severing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

Crystal structures of the vitamin D-binding protein and its complex with actin: structural basis of the actin-scavenger system

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

Trisoxazole macrolide toxins mimic the binding of actin-capping proteins to actin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

The beta-thymosin/WH2 domain; structural basis for the switch from inhibition to promotion of actin assembly

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

Actin-binding proteins--a unifying hypothesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

Audiologic aspects of the search for DFNA20: a gene causing late-onset, progressive, sensorineural hearing loss.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

Hereditary Progressive Perceptive Deafness in a Family of 72 Patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

21 January 2018

Clinical application of genetic testing for deafness

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201670

7 January 2021

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10.1038/SJ.EJHG.5201670

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29 January 2020

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29 January 2020

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