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Primäre Linsenluxation (PLL)
| Akronym: | PLL |
| Gene: | ADAMTS17 |
| Mutation: | c.1473+1G>A |
| Vererbung: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Methode: | LDPA (Ligation-dependent Probe Amplification) |
| Akronym: | PLL |
| Gene: | ADAMTS17 |
| Mutation: | c.1473+1G>A |
| Vererbung: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Methode: | LDPA (Ligation-dependent Probe Amplification) |