title: A second leaky splice-site mutation in the spastin gene.
authors.forename: I K
authors.initials: IK
authors.lastname: Svenson
authors.forename: A E
authors.initials: AE
authors.lastname: Ashley-Koch
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: D A
authors.initials: DA
authors.lastname: Marchuk
mesh_terms: D000251:Adenosine Triphosphatases; D017398:Alternative Splicing / Q000235:genetics*; D000818:Animals; D019556:COS Cells; D002135:Calcium-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D019683:Penetrance; D011110:Polymorphism, Genetic / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D000074181:Spastin; D014407:Tumor Cells, Cultured
chemical_list: D002135:Calcium-Binding Proteins; D022821:RNA Splice Sites; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human