Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurological disease. Mutations of the Cu/Zn superoxide dismutase gene (SOD1) are responsible for 20% of autosomal dominant familial ALS (FALS).

An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation

Amoroso, Antonio;
2003-01-01

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurological disease. Mutations of the Cu/Zn superoxide dismutase gene (SOD1) are responsible for 20% of autosomal dominant familial ALS (FALS).
2003
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3
167
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Adolescent; Adult; Aged; Amyotrophic Lateral Sclerosis; DNA Mutational Analysis; Family Health; Female; Humans; Italy; Leucine; Male; Phenylalanine; Polymerase Chain Reaction; Superoxide Dismutase; Superoxide Dismutase-1; Genotype; Mutation; Phenotype
Ferrera, Loretta; Caponnetto, Claudia; Marini, Valeria; Rizzi, Domenica; Bordo, Domenico; Penco, Silvana; Amoroso, Antonio; Origone, Paola; Garrè, Cecilia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1672371
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