Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
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Jones CT, Shaw PJ, Chari G, Brock DJ
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
Mol Cell Probes. 1994 Aug;8(4):329-30.
- PubMed ID
- 7870076 [ View in PubMed]
- Abstract
We have been screening a cohort of 46 sporadic and 10 familial amyotrophic lateral sclerosis patients for mutations in the superoxide dismutase gene (SOD1) using a combination of SSCP and direct PCR sequencing. A novel missense mutation (Asp101Asn) has been detected in one sporadic patient and a previously reported mutation has been found in two familial cases.