The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles - Boone, Philip M.; Yuan, Bo; Campbell, Ian M.; Scull, Jennifer C.; Withers, Marjorie A.; Baggett, Brett C.; Beck, Christine R.; Shaw, Christine J.; Stankiewicz, Pawel; Moretti, Paolo; Goodwin, Wendy E.; Hein, Nichole; et al. (American journal of human genetics, 2014)
Keywords: Adenosine Triphosphatases - genetics; Alu Elements - genetics; Alzheimer's disease; Base Sequence; Cation Transport Proteins - genetics; Cell Line, Transformed; Deoxyribonucleic acid; DNA; DNA Copy Number Variations - genetics; Gene loci; Genomics; Genotype; Genotype & phenotype; Humans; Mutation; Pathogenesis; Protein Isoforms - genetics; Recombinant Fusion Proteins - genetics; Sequence Analysis, DNA; Sequence Deletion; Spastic Paraplegia, Hereditary - genetics; Spastin