A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome

Type 2 brittle cornea syndrome (BCS2) is an inherited connective tissue disease with a devastating ocular phenotype caused by mutations in the transcription factor PR domain containing 5 (PRDM5) hypothesized to exert epigenetic effects through histone and DNA methylation. Here we investigate clinica...

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Publicado en:Hum Mol Genet
Autores principales: Porter, Louise F., Galli, Giorgio G., Williamson, Sally, Selley, Julian, Knight, David, Elcioglu, Nursel, Aydin, Ali, Elcioglu, Mustafa, Venselaar, Hanka, Lund, Anders H., Bonshek, Richard, Black, Graeme C., Manson, Forbes D.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2015
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4634368/
https://ncbi.nlm.nih.gov/pubmed/26395458
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv345
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