Study Detail

TitleExome sequencing and disease analysis implicate of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis
Study TypeOther
Abstract The study involves a single consanguineous Palestinian family with Hereditary Spastic Paraparesis. The affected individuals suffer from spasticity of the lower limbs and abnormal gait. Using exome sequencing and homozygosity mapping, our analysis implicated the causative mutation in the motor domain .. [more]
Center NamedbGaP