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Article

Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia.

Blood cells, molecules & diseases - 1 Apr 2000

Góth L, Shemirani A, Kalmár T

Abstract excerpt

Acatalasemia, a deficiency of enzyme catalase, is an autosomal recessive syndrome with an incidence of 5:106 in Hungary. We have examined the first Hungarian acatalasemic family for the disease-causing mutation. All exons of the catalase gene were screened by PCR-SSCP, PCR-heteroduplex, and nucleotide sequence analysis. The heteroduplex formation detected in exon 2 was verified by nucleotide sequence analysis. We...

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Identifiers

PMID: 11001624
DOI: 10.1006/bcmd.2000.0288

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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