Spastic paraplegia in Romania: high prevalence of SPG4 mutations.
Orlacchio
A
A
Patrono
C
C
Borreca
A
A
Babalini
C
C
Bernardi
G
G
Kawarai
T
T
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D018389:Codon, Nonsense / Q000235:genetics; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D006580:Genetic Carrier Screening; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D022821:RNA Splice Sites / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000453:epidemiology / Q000235:genetics*; D000074181:Spastin
D018389:Codon, Nonsense; D022821:RNA Splice Sites; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human