Study Detail

TitleGenome and exome sequencing of a Spinocerebellar ataxias affected family
Study TypeWhole Genome Sequencing
Abstract By performing exome and whole genome sequencing on multiple family members of an autosomal dominant SCA pedigree, we identified a single point mutation in the coding region of a protein-coding gene in all affected individuals but not in unaffected family members. Further, this mutation was not obser .. [more]
Center NameBioProject