disease 983 words KG: ent-dise-1f66aa31
Contents

Familial Fatal Insomnia (FFI)

Disease Info
Gene*PRNP* (prion protein gene), located on chromosome 20p13
MutationD178N (Asp178Asn)
Codon 129 polymorphismMethionine (M) carrier — the 129M/129M genotype is required for the FFI phenotype[^3]
DatabasesOMIMOrphanetClinicalTrialsPubMed

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