Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment

Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment

Mutations in GJB2, which encodes the gap junction protein connexin 26 (Cx26), are one of the major causes for inherited and sporadic nonsyndromic hearing impairment. This study aimed to functionally characterize more frequent GJB2 mutations identified in patients showing nonsyndromic hearing impairm...

Full description

Bibliographic Details
Main Authors: M. Palmada, K. Schmalisch, C. Böhmer, N. Schug, M. Pfister, F. Lang, N. Blin
Format: Article
Language:English
Published: Elsevier 2006-04-01
Series:Neurobiology of Disease
Subjects:
Gap junction
Connexins
Cx26
GJB2
Mutations
Xenopus laevis
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996105002779

Internet

http://www.sciencedirect.com/science/article/pii/S0969996105002779

Similar Items