Progressive Zapfen-Stäbchen-Degeneration (PRA-PRCD)
| Akronym: | PRCD, PRA-PRCD |
| Gene: | PRCD |
| Mutation: | c.5G>A |
| Vererbung: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Methode: | LDPA (Ligation-dependent Probe Amplification), Sanger sequencing |
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