Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.

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The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.

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Q47143881-6176A2E4-B45F-440E-8DDD-40F0768B2196

P2860

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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Identification of TMPRSS3 as a ...... oss in the Chinese Population.

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Identification of TMPRSS3 as a ...... oss in the Chinese Population.

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Identification of TMPRSS3 as a ...... oss in the Chinese Population.

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P1476

Identification of TMPRSS3 as a ...... Loss in the Chinese Population

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P2093

Dan Bai

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Dong-Yang Kang

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Guo-Jian Wang

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Jia Li

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Jin-Cao Xu

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Mei-Guang Zhang

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Ming-Yu Han

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

Ping Gu

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Sha-Sha Huang

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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 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

Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.

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3192090

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scholarly article

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10.1155/2017/3192090

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2017

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Xue Gao

Yong-Yi Yuan

Pu Dai

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2017-06-13T00:00:00Z

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28695016

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5485344

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Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.

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P2860

P2860

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.

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