A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).

doi:10.1097/00005537-199810000-00022

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Article

A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).

The Laryngoscope - 1 Oct 1998

Hagiwara H, Tamagawa Y, Kitamura K, Kodera K

Abstract excerpt

OBJECTIVE: The molecular defect in patients with X-linked mixed deafness showing a perilymphatic gusher at stapedectomy (DFN3) has been attributed to mutations in the POU3F4 gene. This study aimed to clarify an allelic variant of this gene. STUDY DESIGN: This was a genetic study of a single Japan...

Topics

Asian People
Audiometry, Pure-Tone
DNA Mutational Analysis
Deafness
Female
Genetic Linkage
Humans
Japan
Male
Mutation
POU Domain Factors
Pedigree
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Transcription Factors
X Chromosome

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