title: Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
authors.affiliation: U.O. Citogenetica e Genetica Molecolare: Azienda Ospedaliero Universitaria Pisana, Pisa, Italy. a.fogli@ao-pisa.toscana.it
authors.forename: Antonella
authors.initials: A
authors.lastname: Fogli
authors.forename: Roberta
authors.initials: R
authors.lastname: Battini
authors.forename: Fulvia
authors.initials: F
authors.lastname: Baldinotti
authors.forename: Michelucci
authors.initials: M
authors.lastname: Angela
authors.forename: Conidi Maria
authors.initials: CM
authors.lastname: Elena
authors.forename: Simi
authors.initials: S
authors.lastname: Paolo
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D000074181:Spastin
chemical_list: D003062:Codon; D009711:Nucleotides; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human