Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.

doi:10.1136/jmg.34.2.111

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Article

Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.

Journal of medical genetics - 1 Feb 1997

Day I N, Haddad L, O'Dell S D, Day L B, Whittall R A, Humphries S E

Abstract excerpt

Familial hypercholesterolaemia is commonly caused by mutations in the low density lipoprotein receptor (LDLR) gene and more than 300 different mutations have been described worldwide. Some mutations occur at relatively higher frequency in certain populations, reflecting both chance and demography...

Topics

Alleles
England
Humans
Hypercholesterolemia
Linkage Disequilibrium
Microsatellite Repeats
Mutation
Receptors, LDL

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