A second leaky splice-site mutation in the spastin gene.
Svenson
I K
IK
Ashley-Koch
A E
AE
Pericak-Vance
M A
MA
Marchuk
D A
DA
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
D002135:Calcium-Binding Proteins; D022821:RNA Splice Sites; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human