Bertoli Avella, A.M.

patient mutation disease family study chromosome analysis linkage region genet protein marker alzheimer parkinson haplotype heart allele parkin population control association table aortic identi polymorphism autosomal valve locus result disorder novel missense genetic j hum genet individual syndrome onset genotype identi fied aneurysm evidence phenotype member cause expression presenilin group change development sample figure score rbm 24a family members variant factor parkin mutations deletion smad 3 mutations frequency parkinsonism early-onset late-onset signi model embryo genome ann neurol mapping abnormality relative dementia rotterdam brain alzheimer disease analyses anomaly department linkage analysis chapter