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Article

Biochemical and genetic basis of red cell enzyme deficiencies.

Bailliere's best practice & research. Clinical haematology - 1 Mar 2000

Jacobasch G

Abstract excerpt

Enzyme deficiencies have been identified in all erythrocyte pathways. Their frequencies differ with respect to the affected enzyme, the severity of the clinical manifestations and the geographical distribution. Most mutations are found within the coding sequences of genes, missense mutations occu...

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Identifiers

PMID: 10916675
DOI: 10.1053/beha.2000.0054

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10916675-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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