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Article

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

Journal of molecular medicine (Berlin, Germany) - 1 Mar 2006

Santos Regie Lyn P, El-Shanti Hatem, Sikandar Shaheen, Lee Kwanghyuk, Bhatti Attya, Yan Kai, Chahrour Maria H, McArthur Nathan, Pham Thanh L, Mahasneh Amjad Abdullah, Ahmad Wasim, Leal Suzanne M

Abstract excerpt

To date, 37 genes have been identified for nonsyndromic hearing impairment (NSHI). Identifying the functional sequence variants within these genes and knowing their population-specific frequencies is of public health value, in particular for genetic screening for NSHI. To determine putatively functional sequence variants in the transmembrane inner ear (TMIE) gene in Pakistani and Jordanian families with autosomal...

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Source

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Identifiers

PMID: 16389551
DOI: 10.1007/s00109-005-0015-3
PMCID: PMC2909111

Genes

TMIE
GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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