Item does not contain fulltextSeveral different mutations in the KCNQ4 K+ channel gene are responsible for autosomal dominant nonsyndromic hearing impairment (DFNA2). Here we describe two additional families originating from Europe and Japan with a KCNQ4 missense mutation (W276S) that was previously found in one European family. We compared the disease-associated haplotype of the three W276S-bearing families using closely linked microsatellite markers and intragenic single nucleotide polymorphisms. Differences between the haplotypes were found, excluding a single founder mutation for the families. Therefore, the W276S mutation has occurred three times independently, and most likely represents a hot spot for mutation in the KCNQ4 gene
Abstract: The purpose of this review is to assess the current literature on deafness nonsyndromic au...
A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic...
Laura M Dominguez, Kelley M DodsonDepartment of Otolaryngology, Head and Neck Surgery, Virginia Comm...
Several different mutations in the KCNQ4 K+ channel gene are responsible for autosomal dominant nons...
Autosomal dominant non-syndromic hearing loss (ADNSHL) is highly heterogeneous, among them, KCNQ4 is...
Autosomal dominant non-syndromic hearing loss (ADNSHL) is highly heterogeneous, among them, KCNQ4 is...
Mutations in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are etiologically linked t...
The present study of KCNQ4 mutations was carried out to 1) determine the prevalence by unbiased popu...
KCNQ4 is frequently mutated in autosomal dominant non-syndromic hearing loss (NSHL), a typically lat...
Objective—To identify the genetic etiology in a family with autosomal dominant progressive sensorine...
Analysis of genotyping of a five-generation American family with nonsyndromic dominant pro-gressive ...
OBJECTIVES: We undertook to show that in a family with nonsyndromic autosomal dominant sensorineural...
Abstract Mutations in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are etiologically...
OBJECTIVE: Genotype a family trait with autosomal dominant nonsyndromic sensorineural hearing impair...
Clinical presentation is heterogeneous for autosomal dominant nonsyndromic hearing loss (ADNSHL). Va...
Abstract: The purpose of this review is to assess the current literature on deafness nonsyndromic au...
A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic...
Laura M Dominguez, Kelley M DodsonDepartment of Otolaryngology, Head and Neck Surgery, Virginia Comm...
Several different mutations in the KCNQ4 K+ channel gene are responsible for autosomal dominant nons...
Autosomal dominant non-syndromic hearing loss (ADNSHL) is highly heterogeneous, among them, KCNQ4 is...
Autosomal dominant non-syndromic hearing loss (ADNSHL) is highly heterogeneous, among them, KCNQ4 is...
Mutations in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are etiologically linked t...
The present study of KCNQ4 mutations was carried out to 1) determine the prevalence by unbiased popu...
KCNQ4 is frequently mutated in autosomal dominant non-syndromic hearing loss (NSHL), a typically lat...
Objective—To identify the genetic etiology in a family with autosomal dominant progressive sensorine...
Analysis of genotyping of a five-generation American family with nonsyndromic dominant pro-gressive ...
OBJECTIVES: We undertook to show that in a family with nonsyndromic autosomal dominant sensorineural...
Abstract Mutations in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are etiologically...
OBJECTIVE: Genotype a family trait with autosomal dominant nonsyndromic sensorineural hearing impair...
Clinical presentation is heterogeneous for autosomal dominant nonsyndromic hearing loss (ADNSHL). Va...
Abstract: The purpose of this review is to assess the current literature on deafness nonsyndromic au...
A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic...
Laura M Dominguez, Kelley M DodsonDepartment of Otolaryngology, Head and Neck Surgery, Virginia Comm...