A de novo duplication in the low density lipoprotein receptor gene

Mutations in the low density lipoprotein receptor (LDLR) gene cause the autosomal dominant disease familial hypercholesterolemia (FH). The frequency of heterozygous FH, characterised by elevated cholesterol levels and an increased risk of coronary heart disease (CHD), is similar to 1/500 in most pop...

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Veröffentlicht in:	Human mutation 1995, Vol.6 (2), p.181-183
Hauptverfasser:	Kotze, Maritha J., Theart, Leonora, Peeters, Armand, Langenhoven, Elzet
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Base Sequence Child Female Humans Hypercholesterolemia - genetics Male Middle Aged Molecular Sequence Data Multigene Family - genetics Mutation Pedigree Receptors, LDL - genetics
Online-Zugang:	Volltext
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