Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis.
Open Access
- 1 February 1998
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 35 (2) , 174
- https://doi.org/10.1136/jmg.35.2.174
Abstract
No abstract availableThis publication has 5 references indexed in Scilit:
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- Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation: A clinical and genealogical study of 36 patientsBrain, 1996
- The SWISS-PROT protein sequence data bank and its new supplement TREMBLNucleic Acids Research, 1996
- Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutaseNature Genetics, 1995