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Table 1 Defects in the EYS gene in patients for this study

From: The manner of decay of genetically defective EYS gene transcripts in photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients depends on the type of mutation

Patient # ID Sex Age (y) Allele 1 Allele 2
Mutation Effect Mutation Effect
1 RP38 F 67 c.4957dupA p.Ser1653Lysfs*2 c.4957dupA p.Ser1653Lysfs*2
2 RP174 M 58 c.4957dupA p.Ser1653Lysfs*2 c.8805C > A p.Tyr2935*
3 RP165 F 79 c.4957dupA p.Ser1653Lysfs*2 c.1211dupA p.Asn404Lysfs*3