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A DNA Variant within the MYO7A Promoter Regulates YY1 Transcription Factor Binding and Gene Expression Serving as a Potential Dominant DFNA11 Auditory Genetic Modifier

Mutations within MYO7A can lead to recessive and dominant forms of inherited hearing loss. We previously identified a large pedigree (referred to as the HL2 family) with hearing loss that first impacts the low and mid frequencies segregating a dominant MYO7A mutation in exon 17 at DNA residue G2164C...

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Detalhes bibliográficos
Main Authors: Street, Valerie A., Li, Jin, Robbins, Carol A., Kallman, Jeremy C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083214/
https://ncbi.nlm.nih.gov/pubmed/21378158
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.228304
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