| Gene | *PRNP* (prion protein gene), located on chromosome 20p13 |
| Mutation | D178N (Asp178Asn) |
| Codon 129 polymorphism | Methionine (M) carrier — the 129M/129M genotype is required for the FFI phenotype[^3] |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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