Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

The contribution of cis-regulatory mutations to human disease remains poorly understood. Whole genome sequencing can identify all non-coding variants, yet discrimination of causal regulatory mutations represents a formidable challenge. We used epigenomic annotation in hESC-derived embryonic pancreat...

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Detalhes bibliográficos
Main Authors: Weedon, Michael N., Cebola, Ines, Patch, Ann-Marie, Flanagan, Sarah E., De Franco, Elisa, Caswell, Richard, Rodríguez-Seguí, Santiago A., Shaw-Smith, Charles, Cho, Candy H-H., Allen, Hana Lango, Houghton, Jayne AL., Roth, Christian L., Chen, Rongrong, Hussain, Khalid, Marsh, Phil, Vallier, Ludovic, Murray, Anna, Ellard, Sian, Ferrer, Jorge, Hattersley, Andrew T.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4131753/
https://ncbi.nlm.nih.gov/pubmed/24212882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2826
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