Detection of a novel SPG4-nonsense-mutation in a large German pedigree with pure spastic paraplegia.
Bürk
K
K
Dalski
A
A
Purmann
S
S
Zühlke
C
C
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D002889:Chromosomes, Human, Pair 2; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005260:Female; D005858:Germany / Q000453:epidemiology; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010264:Paraplegia / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D000074181:Spastin
D018389:Codon, Nonsense; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human; D007930:Leucine
Neurology. 2000 Nov 14;55(9):1388-90
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