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Article

Molecular analysis of human acatalasemia. Identification of a splicing mutation.

Journal of molecular biology - 20 Jan 1990

Wen J K, Osumi T, Hashimoto T, Ogata M

Abstract excerpt

To search for the molecular defect of Japanese-type acatalasemia, we cloned the mutant catalase gene from a person with this deficiency. The nucleotide sequence of the mutant gene was determined for all exons, exon/intron junctions, and 5' and 3' flanking regions, and the findings were compared with the sequence from the normal gene. Seven base differences were found between the two genes. Among them, a G to A...

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Identifiers

PMID: 2308162
DOI: 10.1016/0022-2836(90)90359-T

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular analysis of human acatalasemia. Identification of a splicing mutation.PMID 2308162Read ↗

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