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.
Sauter
Simone M
SM
Dörwald
Nadine
N
Engel
Wolfgang
W
Neesen
Jürgen
J
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
D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human