disease 1,375 words KG: ent-dise-64eecf4e
Contents

Genetics of 4R-Tauopathies: Cross-Disease Comparison

Disease Info
H2 HaplotypeThe H2 haplotype is protective and is in linkage disequilibrium with the inversion polymorphism that reduces 4R-tau expression.
MAPTMost cases are sporadic with H1 haplotype association
Chromosome 17q21.31Region linked to FTDP-17 shows overlap
Familial casesRare but reported with MAPT mutations
DatabasesOMIMOrphanetClinicalTrialsPubMed

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