Molecular characterisation of a low-frequency mutation in exon 8 of the human low-density lipoprotein receptor gene

The prevalence of familial hypercholesterolaemia (FH), an autosomal dominant disease characterised by raised low-density lipoprotein (LDL) cholesterol levels, is at least five times higher in the white Afrikaner population than in most other population groups in the world. A founder gene effect has...

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Veröffentlicht in:	South African medical journal 1989-10, Vol.76 (8), p.402-405
Hauptverfasser:	Kotze, M J, Langenhoven, E, Warnich, L, Marx, M P, Retief, A E
Format:	Artikel
Sprache:	eng
Schlagworte:	Cloning, Molecular DNA - analysis DNA Mutational Analysis Exons Genetic Vectors Humans Hyperlipoproteinemia Type II - genetics Polymorphism, Restriction Fragment Length Receptors, LDL - genetics
Online-Zugang:	Volltext
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