II. Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia

D. W. Bilheimer, C. East, Scott M Grundy, J. J. Nora

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

We have studied a family carrying a variant of the class 2 mutation of familial hypercholesterolemia (FH) in which there is unusual longevity and in which obligate heterozygotes did not express constant or statistically significant hypercholesterolemia. The heterozygotes did not express constant or statistically significant hypercholesterolemia. The heterozygotes have the same kinetic defect in the processing of low density lipoprotein (LDL) receptors their fibroblasts and the reduced fractional catabolic rate for apoLDL that is characteristic of other patients with heterozygotes FH. However, their plasma lipid and lipoprotein levels are not as strikingly abnormal because they have normal or near normal rates of apoLDL synthesis.

Original languageEnglish (US)
Pages (from-to)593-598
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume22
Issue number3
DOIs
StatePublished - 1985

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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