Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness? - Wikidata - awgldk - TriplyDB

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

http://www.wikidata.org/entity/Q37714312

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Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.

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Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

http://www.wikidata.org/entity/Q37714312

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 19 March 2010

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Are GJB2 mutations an aggravat ...... ndrial non-syndromic deafness?

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Are GJB2 mutations an aggravat ...... ndrial non-syndromic deafness?

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Are GJB2 mutations an aggravat ...... ndrial non-syndromic deafness?

@en

Are GJB2 mutations an aggravat ...... ndrial non-syndromic deafness?

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prefLabel

Are GJB2 mutations an aggravat ...... ndrial non-syndromic deafness?

@en

Are GJB2 mutations an aggravat ...... ndrial non-syndromic deafness?

@nl

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Journal of Human Genetics

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Are GJB2 mutations an aggravat ...... ndrial non-syndromic deafness?

@en

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Aglaia Giannoulia-Karantana

http://www.w3.org/2001/XMLSchema#string

Dimitrios Kandiloros

http://www.w3.org/2001/XMLSchema#string

Elisabeth Ferekidou

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George S Korres

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Haris Kokotas

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Maria Grigoriadou

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Michael B Petersen

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Stavros Korres

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P2860

The Prevalence of Hearing Impairment and Reported Hearing Disability among Adults in Great Britain

A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation

Maternal inheritance of human mitochondrial DNA

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss

Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop

Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.

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265-269

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scholarly article

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10.1038/JHG.2010.23

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5

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55

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2010-03-19T00:00:00Z

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20300122

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