Familial hypercholesterolemia: A genetic receptor disease

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Abstract

We now understand the biochemical basis of this disorder, which affects one person in 500 in the United States. It is inherited as an autosomal dominant or quasi-dominant trait, with phenotypic effects expressed in heterozygotes as well as in homozygotes. Diagnosis is possible at birth, but effective treatment is thus far available only for the heterozygous form.

Original languageEnglish (US)
Pages (from-to)35-46
Number of pages12
JournalHospital Practice
Volume20
Issue number11
Publication statusPublished - 1985

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ASJC Scopus subject areas

  • Medicine(all)

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