Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele

In a large kindred of German descent, we found a novel allele that segregates with deafness when present in trans with the 35delG allele of GJB2. Qualitative polymerase chain reaction–based allele-specific expression assays showed that expression of both GJB2 and GJB6 from the novel allele is dramat...

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Autores principales: Wilch, Ellen, Zhu, Mei, Burkhart, Kirk B., Regier, Martha, Elfenbein, Jill L., Fisher, Rachel A., Friderici, Karen H.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2006
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1474119/
https://ncbi.nlm.nih.gov/pubmed/16773579
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