Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient

C T Jones; P J Shaw; G Chari; D J Brock

doi:10.1006/mcpr.1994.1046

Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient

Mol Cell Probes. 1994 Aug;8(4):329-30. doi: 10.1006/mcpr.1994.1046.

Authors

C T Jones¹, P J Shaw, G Chari, D J Brock

Affiliation

¹ Human Genetics Unit, University of Edinburgh, Western General Hospital.

PMID: 7870076
DOI: 10.1006/mcpr.1994.1046

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amyotrophic Lateral Sclerosis / epidemiology
Amyotrophic Lateral Sclerosis / genetics*
Asia / ethnology
Cohort Studies
Exons*
Genetic Testing
Humans
Male
Middle Aged
Point Mutation*
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Scotland / epidemiology
Superoxide Dismutase / genetics*

Substances

Superoxide Dismutase