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Table 1 Clinical samples used for study

From: Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome

Clinical samples Age Sex Pathology PRDM5 mutation Functional consequence of mutation Application Reference
IHC – human eye
WB – skin fibroblasts
IF – skin fibroblasts
P1 10 M BCS Δ 9–14 exons Shortened, internally deleted protein product IHC/WB [4]
P2 21 F BCS Δ 9–14 exons Shortened, internally deleted protein product IHC/Q-PCR/WB [4]
P3 8 M BCS Arg590* Truncated protein product Q-PCR/WB [4]
P4 26 F BCS p.Glu134* Presumed null Case report/IF  
Control post-mortem eye #1 70 F None Wild-type   IHC  
Control post-mortem eye #2 58 M None Wild-type   IHC  
Control skin fibroblasts #1 12 M None Wild-type   IF/WB [4]
Control skin fibroblasts #2 19 F None Wild-type   IF [4]
  1. IHC Immunohistochemistry, WB Western blotting, IF Immunofluorescence