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Article

Identification of the mutation responsible for a case of plasmatic apolipoprotein CII deficiency (Apo CII-Bari).

Biochemical and biophysical research communications - 16 May 1990

Crecchio C, Capurso A, Pepe G

Abstract excerpt

We studied a case of familial Apolipoprotein CII deficiency. By Southern hybridization, amplification and sequence analysis, the genetic defect was identified. It consists in a point mutation C- greater than G in the third exon of the gene causing a premature stop codon. Truncated at the aa. 36 of the mature form, the protein loses its functional domains, becomes inefficient and cannot be detected in the plasma,...

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Identifiers

PMID: 1971748
DOI: 10.1016/0006-291x(90)91145-i

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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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