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Article

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.

European journal of human genetics : EJHG - 1 Nov 2005

Faivre Laurence, Saugier-Veber Pascale, Pais de Barros Jean-Paul, Verges Bruno, Couret Bertrand, Lorcerie Bernard, Thauvin Christel, Charbonnier Françoise, Huet Frédéric, Gambert Philippe, Frebourg Thierry, Duvillard Laurence

Abstract excerpt

Splenomegaly with sea-blue histiocytes, thrombocytopenia and hypertriglyceridemia is a very rare association that has been described in only one report to date. The molecular defect in the two reported patients consists in a deletion of a leucine at position 149 in the receptor-binding region of the apoE molecule. Here, we report on another family in whom the proband and his brother were diagnosed with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 16094309
DOI: 10.1038/sj.ejhg.5201480

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