A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis.

doi:10.1006/bbrc.1994.2497

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Article

A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis.

Biochemical and biophysical research communications - 28 Oct 1994

Hirano M, Fujii J, Nagai Y, Sonobe M, Okamoto K, Araki H, Taniguchi N, Ueno S

Abstract excerpt

We have identified a new mutant Cu/Zn superoxide dismutase (SOD1) deduced from the nucleotide sequences of peripheral blood lymphocyte mRNA from Japanese patients with familial amyotrophic lateral sclerosis (FALS). Sequence analysis of reverse transcriptase-initiated PCR amplified mRNA revealed a heterozygosity indicative of one normal allele and one variant allele with a T-->A transversion. This base change led...

Topics

Adult
Aged
Amyotrophic Lateral Sclerosis
Base Sequence
DNA Primers
Female
Glutamic Acid
Humans
Japan
Lymphocytes
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Sequence Data

Mutation

RNA, Messenger

Superoxide Dismutase

Valine

Source

Open in PubMed

Identifiers

PMID: 7980516
DOI: 10.1006/bbrc.1994.2497

Genes

SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7980516-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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