Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment. - Wikidata - wikimedia - TriplyDB

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.

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Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function

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Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.

http://www.wikidata.org/entity/Q37637310

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 29 January 2017

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

@cs

name

Novel Mutations and Mutation C ...... Recessive Hearing Impairment.

@en

Novel Mutations and Mutation C ...... Recessive Hearing Impairment.

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type

label

Novel Mutations and Mutation C ...... Recessive Hearing Impairment.

@en

Novel Mutations and Mutation C ...... Recessive Hearing Impairment.

@nl

prefLabel

Novel Mutations and Mutation C ...... Recessive Hearing Impairment.

@en

Novel Mutations and Mutation C ...... Recessive Hearing Impairment.

@nl

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BioMed Research International

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Novel Mutations and Mutation C ...... Recessive Hearing Impairment.

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Guo-Jian Wang

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

Jin-Cao Xu

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

Yu Su

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

P2860

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

Autosomal recessive nonsyndromic deafness genes: a review

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

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4707315

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scholarly article

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10.1155/2017/4707315

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2017

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2017-01-29T00:00:00Z

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28246597

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5303592

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