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Article

Bioinformatics analysis of candidate genes and mutations in a congenital sensorineural hearing loss pedigree: detection of 52 genes for the DFNA52 locus.

The Journal of laryngology and otology - 1 Oct 2008

Qiong Pan, Hu Z, Feng Y, Pan Q, Xia J, Xia K

Abstract excerpt

OBJECTIVE: Previously, we have mapped the DFNA52 (Online Mendelian Inheritance in Man (OMIM) 607683) locus, using an 8.8-cM interval on the human chromosome 5q31.1-q32, in a large, consanguineous Chinese family with congenital sensorineural hearing loss. In order to identify the responsible pathogenic mutation within the DFNA52 locus, we set out to identify candidate disease genes within that region and to...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18312703
DOI: 10.1017/S0022215107001582

Genes

NEUROG1
SMAD5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Bioinformatics analysis of candidate genes and mutations in a congenital sensorineural hearing loss pedigree: detection of 52 genes for the DFNA52 locus.PMID 18312703Read ↗

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