Brustenghi, P.

family patient mutation disease hemangioblastoma tumor seizure parkin park 7 parkinsonism park 6 region linkage neurology study germline analysis cerebellar hemangioblastoma vhl gene park 7 region cerebellar chromosome recessive vhl disease lobe epilepsy epilepsy onset marker autosomal suppressor university table locus family history brain parkin gene neurology vol 51 department allele polymorphism status epilepticus hippel-lindau factor parkinson ar-ep neurol history park 7 locus vhl gene mutations von hippel-lindau disease parkin gene mutations children promotor individual genotype early-onset genet score control convulsion parkin mutations rotterdam splice acceptor sequence epilepticu status pdyn promotor polymorphism polymerase chain reaction change fisher expression 2 february 2002 frequency 4 families ϫ1 position deletion italy point generalization hospital brain tumors