Mutation spectrum and genotype–phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study

Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study

(2012) Shin-ichi Usami et al.   PLoS One

A large cohort study ofGJB2mutations in Japanese hearing loss patients

(2010) K Tsukada et al.   CLINICAL GENETICS

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome

(2009) Silvia Dossena et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss

(2009) Pu Dai et al.   PHYSIOLOGICAL GENOMICS

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

(2008) Alejandra Pera et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

(2008) A. Pera et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA