Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

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Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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Bi-allelic inactivating varian ...... prelingual hearing impairment.

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Bi-allelic inactivating varian ...... prelingual hearing impairment.

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Bi-allelic inactivating varian ...... prelingual hearing impairment.

@en

Bi-allelic inactivating varian ...... prelingual hearing impairment.

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Bi-allelic inactivating varian ...... prelingual hearing impairment.

@en

Bi-allelic inactivating varian ...... prelingual hearing impairment.

@nl

P1476

Bi-allelic inactivating varian ...... prelingual hearing impairment.

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P2093

Ellen Elinck

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Josine Widdershoven

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Katrien Ketelslagers

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Kristof Deben

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Nils Peeters

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Sebastien P F JanssensdeVarebeke

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Tom Crins

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Tony Cox

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P2860

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease

Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9

Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening

Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder.

Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers.

Role of protein misfolding in DFNA9 hearing loss.

Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss

Cochlin in the eye: functional implications.

P2888

s41431-017-0066-2

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scholarly article

case report

P356

10.1038/S41431-017-0066-2

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Guy Van Camp

Wim Wuyts

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2018-02-15T00:00:00Z

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29449721

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5891501

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