title: No correlation between amount of aberrant transcript and severity of phenotype in hereditary spastic paraplegia patients with a c.1242A > G splice mutation in the SPG4 gene.
authors.forename: Simone M
authors.initials: SM
authors.lastname: Sauter
authors.forename: Nadine
authors.initials: N
authors.lastname: Dörwald
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Engel
authors.forename: Jürgen
authors.initials: J
authors.lastname: Neesen
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000368:Aged; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D009154:Mutation; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D000074181:Spastin
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human