Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling-Reference-Cited by-同舟云学术

Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling

Published:2009-02 Issue:1 Volume:30 Page:1-7
ISSN:0196-0202
Container-title:Ear & Hearing
language:en
Short-container-title:

Author:

Batissoco Ana Carla,Abreu-Silva Ronaldo Serafim,Braga Maria Cristina Célia,Lezirovitz Karina,Della-Rosa Valter,Alfredo Tabith,Otto Paulo Alberto,Mingroni-Netto Regina Célia

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Speech and Hearing,Otorhinolaryngology

Reference39 articles.

1. Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients.;Abreu-Silva;Braz J Med Biol Res,2006

2. Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c. 35delG of GJB2 and teh 342-Kb deletion involving GJB6.;Bolz;Hear Res,2004

3. Recurrence risks in cases of non-syndromic deafness.;Braga;Braz J Dysmorph Speech Hear Dis,1999

4. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa.;Brobby;N Engl J Med,1998

5. Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).;Common;Clin Exp Dermatol,2005

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