Browsing by Author "Galli, Giorgio"

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

Porter, Louise; Galli, Giorgio; Williamson, Sally; Selley, Julian; Knight, David; Elcioğlu, Nursel; Aydın, Ali; Elcioğlu, Mustafa; Venselaar, Hanka; Lund, Anders; Bonshek, Richard; Black, Graeme; Manson, Forbes (Oxford University Press, 2015)

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 ...