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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

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Stem Cell Research & Therapy

ISSN: 1757-6512