A NOVEL DFNB1 DELETION ALLELE SUPPORTS THE EXISTENCE OF A DISTANT CIS-REGULATORY REGION THAT CONTROLS GJB2 AND GJB6 EXPRESSION

Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four addi...

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Main Authors: Wilch, Ellen, Azaiez, Hela, Fisher, Rachel A., Elfenbein, Jill, Murgia, Alessandra, Birkenhäger, Ralf, Bolz, Hanno, Costa, Sueli Matilde Silva, del Castillo, Ignacio, Haaf, Thomas, Hoefsloot, Lies, Kremer, Hannie, Kubisch, Christian, Le Marechal, Cedric, Pandya, Arti, Sartorato, Edi Lúcia, Schneider, Eberhard, Van Camp, Guy, Wuyts, Wim, Smith, Richard HJ, Friderici, Karen H.
Format: Artigo
Language:Inglês
Published: 2010
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2919588/
https://ncbi.nlm.nih.gov/pubmed/20236118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2010.01387.x
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