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Am. J. Hum. Genet. 77:945957, 2005 GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
 

Summary: Am. J. Hum. Genet. 77:945­957, 2005
945
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
Rikkert L. Snoeckx, Patrick L. M. Huygen, Delphine Feldmann, Sandrine Marlin,
Francžoise Denoyelle, Jaroslaw Waligora, Malgorzata Mueller-Malesinska, Agneszka Pollak,
Rafal Ploski, Alessandra Murgia, Eva Orzan, Pierangela Castorina, Umberto Ambrosetti,
Ewa Nowakowska-Szyrwinska, Jerzy Bal, Wojciech Wiszniewski, Andreas R. Janecke,
Doris Nekahm-Heis, Pavel Seeman, Olga Bendova, Margaret A. Kenna, Anna Frangulov,
Heidi L. Rehm, Mustafa Tekin, Armagan Incesulu, Hans-Henrik M. Dahl, DesireŽe du Sart,
Lucy Jenkins, Deirdre Lucas, Maria Bitner-Glindzicz, Karen B. Avraham,
Zippora Brownstein, Ignacio del Castillo, Felipe Moreno, Nikolaus Blin, Markus Pfister,
Istvan Sziklai, Timea Toth, Philip M. Kelley, Edward S. Cohn, Lionel Van Maldergem,
Pascale Hilbert, Anne-Francžoise Roux, Michel Mondain, Lies H. Hoefsloot,
Cor W. R. J. Cremers, Tuija Lošppošnen, Heikki Lošppošnen, Agnete Parving, Karen Gronskov,
Iris Schrijver, Joseph Roberson, Francesca Gualandi, Alessandro Martini,
Genevie`ve Lina-Granade, Nathalie Pallares-Ruiz, CeŽu Correia, Gracža Fialho, Kim Cryns,
Nele Hilgert, Paul Van de Heyning, Carla J. Nishimura, Richard J. H. Smith,
and Guy Van Camp*
Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impair-
ment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26

  

Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University

 

Collections: Biology and Medicine