Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.

In a large kindred of 66 individuals, 22 were identified as heterozygous and 3 as homozygous for a mutation (pro664----leu) in the LDL-receptor gene that gives rise to familial hypercholesterolaemia (FH). All the heterozygotes had a raised level of plasma total cholesterol and low density lipoprotei...

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Bibliographische Detailangaben
Hauptverfasser: Soutar, A K, McCarthy, S N, Seed, M, Knight, B L
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1991
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC295368/
https://ncbi.nlm.nih.gov/pubmed/1830890
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