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Article

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.

The Annals of otology, rhinology, and laryngology - 1 Apr 2011

de Heer Anne-Martine R, Schraders Margit, Oostrik Jaap, Hoefsloot Lies, Huygen Patrick L M, Cremers Cor W R J

Abstract excerpt

OBJECTIVES: We undertook to show that in a family with nonsyndromic autosomal dominant sensorineural hearing loss, genetic analysis can be successful when there is a match with a specific DFNA audioprofile. We also provide an update of relevant DFNA2/KCNQ4 audioprofiles and report the results of automatic audioprofile analysis using the Internet program AudioGene. METHODS: Audiometric data and blood samples were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21585154
DOI: 10.1177/000348941112000405

Genes

KCNQ4

Variants

Provenance

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