Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
Fogli
Antonella
A
U.O. Citogenetica e Genetica Molecolare: Azienda Ospedaliero Universitaria Pisana, Pisa, Italy. a.fogli@ao-pisa.toscana.it
Battini
Roberta
R
Baldinotti
Fulvia
F
Conidi
Maria Elena
ME
Michelucci
Angela
A
Simi
Paolo
P
D000251:Adenosine Triphosphatases / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D000074181:Spastin
D003062:Codon; D009711:Nucleotides; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human