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Article

Heterogeneity in the processing defect of SLC26A4 mutants.

Journal of medical genetics - 1 Jul 2008

Yoon J S, Park H-J, Yoo S-Y, Namkung W, Jo M J, Koo S K, Park H-Y, Lee W-S, Kim K H, Lee M G

Abstract excerpt

BACKGROUND: Mutations in the SLC26A4 gene are responsible for Pendred syndrome and non-syndromic hearing loss (DFNB4). This study analysed non-synonymous SLC26A4 mutations newly identified in East Asians, as well as three common mutations in Caucasians, to characterise their molecular pathogenic...

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Source

Identifiers

PMID: 18310264
DOI: 10.1136/jmg.2007.054635

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18310264-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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