Additional file 1: Table S1. of Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome
- Louise Porter (192445)
- Roberto Gallego-Pinazo (419546)
- Catherine Keeling (3410000)
- Martyna Kamieniorz (3409997)
- Nicoletta Zoppi (2940009)
- Marina Colombi (508336)
- Cecilia Giunta (3409991)
- Richard Bonshek (3409994)
- Forbes Manson (3410003)
- Graeme Black (42818)
Publication date
November 2015
DOIAbstract
Ocular PRDM5 expression and embryonic origin of ocular structure. Figure S1. Elastin staining in Bruch’s membrane in PRDM5-associated disease. Figure S2. The 5 layers of Bruch’s membrane (modified from Booji et al, 2010) [15]. Figure S3. qPCR assessment of target gene ITGA8 demonstrating fold change in mRNA expression in dermal fibroblasts isolated from BCS patients with different mutations: PRDM5 p.Arg590* (P3) and PRDM5 internal deletion of exons 9 to 14 (P1), versus sex and age-matched control fibroblast cell lines in the logarithmic scale (Log2RQ). (DOCX 5201 kb
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