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Article

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.

Science (New York, N.Y.) - 20 Aug 1993

Deng H X, Hentati A, Tainer J A, Iqbal Z, Cayabyab A, Hung W Y, Getzoff E D, Hu P, Herzfeldt B, Roos R P

Abstract excerpt

Single-site mutants in the Cu,Zn superoxide dismutase (SOD) gene (SOD1) occur in patients with the fatal neurodegenerative disorder familial amyotrophic lateral sclerosis (FALS). Complete screening of the SOD1 coding region revealed that the mutation Ala4 to Val in exon 1 was the most frequent one; mutations were identified in exons 2, 4, and 5 but not in the active site region formed by exon 3. The 2.4 A crystal...

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PMID: 8351519
DOI: 10.1126/science.8351519

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SOD1

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