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Article

Phenotype and genotype expression in pseudohomozygous factor VLEIDEN : the need for phenotype analysis.

Arteriosclerosis, thrombosis, and vascular biology - 1 Feb 1999

Kalafatis M, Bernardi F, Simioni P, Lunghi B, Girolami A, Mann K G

Abstract excerpt

The presence of a DNA mutation is frequently used to define a disease or a risk state. Because DNA typing has become easy and convenient in contrast to protein characterization, it is generally assumed that a mutation if present (or not) at the DNA level will be also present (or not) in the corresponding protein. However, discrepancies between phenotype and genotype can occur. A point mutation in the coagulation...

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PMID: 9974416
DOI: 10.1161/01.atv.19.2.336

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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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