An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation.
D000293:Adolescent; D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy; D007930:Leucine / Q000235:genetics; D008297:Male; D009154:Mutation; D010641:Phenotype; D010649:Phenylalanine / Q000235:genetics; D016133:Polymerase Chain Reaction; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D010649:Phenylalanine; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; D007930:Leucine