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

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One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR.

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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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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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The Analysis of A Frequent TMP ...... figuration among Deaf Koreans.

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The Analysis of A Frequent TMP ...... figuration among Deaf Koreans.

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type

Item

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The Analysis of A Frequent TMP ...... figuration among Deaf Koreans.

@en

The Analysis of A Frequent TMP ...... figuration among Deaf Koreans.

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The Analysis of A Frequent TMP ...... figuration among Deaf Koreans.

@en

The Analysis of A Frequent TMP ...... figuration among Deaf Koreans.

@nl

P1476

The Analysis of A Frequent TMP ...... figuration among Deaf Koreans.

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P2093

Ah Reum Kim

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

Chung Lee

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

Doo-Yi Oh

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

Juyong Chung

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

Nayoung K D Kim

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P2860

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

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

The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations

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

TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness

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

TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

Functional evaluation of GJB2 variants in nonsyndromic hearing loss.

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scholarly article

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10.3390/IJMS18112246

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English

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Woong-Yang Park

Byung Yoon Choi

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2017-10-26T00:00:00Z

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29072634

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5713216

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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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P2860

P2860

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

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P1433

P1476

P2093

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P1476

P2093

P2860

P31

P356

P407

P433

P478

P50

P577

P698

P932