Early deterioration of residual hearing in patients with SLC26A4 mutations.

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Congenital hearing loss.

P2860

Q44259602-42106EBC-D985-4F55-BAEB-250E4D28DEF2

P2860

Early deterioration of residual hearing in patients with SLC26A4 mutations.

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Early deterioration of residual hearing in patients with SLC26A4 mutations.

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Early deterioration of residual hearing in patients with SLC26A4 mutations.

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Early deterioration of residual hearing in patients with SLC26A4 mutations.

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P1476

Early deterioration of residual hearing in patients with SLC26A4 mutations

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P2093

Ah Young Park

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

Bo Gyung Kim

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Bo Sung Kang

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Jong Dae Lee

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Kyung Jin Roh

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Seung Chul Lee

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Young Joon Seo

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P2860

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

A mutation in PDS causes non-syndromic recessive deafness

Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition

The large vestibular aqueduct syndrome.

Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.

Salicylate restores transport function and anion exchanger activity of missense pendrin mutations.

Limitations of hearing screening in newborns with PDS mutations.

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E286-91

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scholarly article

P356

10.1002/LARY.25786

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English

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P478

126

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P50

Jae Young Choi

P577

2015-12-09T00:00:00Z

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P698

26650914

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Early deterioration of residual hearing in patients with SLC26A4 mutations.

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P2860

P2860

Early deterioration of residual hearing in patients with SLC26A4 mutations.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698