Rohe, C.F.

mutation family c .1366c carrier .1366c patient level mutation carriers t mutation 1 mrna levels disease thrombocytopenia acbd 5 analysis 1 mutations 1366 t allele genomic dna family r parkinson study individual allele genomic italian member 1 exon 5–6 variant protein sample early-onset signal autosomal 1 gene laboratory monitoring department haplotype analysis control ywhaz region thc 2 locus 1 mrna level marker haplotype 1366 t signal c .22c variant result nonsense-mediated mrna decay klein acbd 5 gene german transcript effect mrna levels exon 7–8 phenotypic variability german family assay control genes status expression neurogenetic germany sequencing 32 genes acbd 5 protein blood early-onset parkinsonism 1 c .1366c binding übeck 1 mutation italian patients parkinson disease p.his 8tyr microsatellite markers mastl variability st george-hyslop p c .1366c mutation amendola g