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Pearl
| Akronym: | Pearl |
| Gene: | SLC45A2 (MATP) |
| Mutation: | c.985G>A |
| Vererbung: | Autosomal Recessive |
| Sample type: | WBE (Whole Blood EDTA), HA (Hairs - with roots) |
| Methode: | Sanger sequencing |
| Akronym: | Pearl |
| Gene: | SLC45A2 (MATP) |
| Mutation: | c.985G>A |
| Vererbung: | Autosomal Recessive |
| Sample type: | WBE (Whole Blood EDTA), HA (Hairs - with roots) |
| Methode: | Sanger sequencing |