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    Clin Genet. 1976 Feb;9(2):149-55.

    Further observations on familial hypobetaliproteinaemia.

    Tamir I, Levtow O, Lotan D, Legum C, Heldenberg D, Werbin B.

    Abstract

    A family with hypobetalipoproteinaemia with 10 affected members is described. In six patients low density lipoprotein cholesterol (LDL-c) concentrations were about 10 % of normal. In four LDL-c was reduced to about 50 % of normal; these four patients probably represent the "intermediate" form of hypobetalipoproteinaemia. This variation in total cholesterol concentration and LDL-c among the affected individuals of the same family could reflect differences of expression in a single aberrant gene or additive expression of a gene at a second locus.

    PMID:
    174851
    [PubMed - indexed for MEDLINE]

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