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Identification of cis-regulatory sequence variations in individual genome sequences

Functional contributions of cis-regulatory sequence variations to human genetic disease are numerous. For instance, disrupting variations in a HNF4A transcription factor binding site upstream of the Factor IX gene contributes causally to hemophilia B Leyden. Although clinical genome sequence analysi...

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Detalles Bibliográficos
Autores principales:	Worsley-Hunt, Rebecca, Bernard, Virginie, Wasserman, Wyeth W
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2011
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3239227/ https://www.ncbi.nlm.nih.gov/pubmed/21989199 http://dx.doi.org/10.1186/gm281

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