Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians

Hum Mol Genet. 1994 Sep;3(9):1689-91. doi: 10.1093/hmg/3.9.1689.

Authors

J Simard¹, S Moorjani, M C Vohl, P Couture, A L Torres, C Gagné, J P Després, F Labrie, P J Lupien

Affiliation

¹ Laboratory of Molecular Endocrinology, CHUL Research Center, Québec, Canada.

PMID: 7833932
DOI: 10.1093/hmg/3.9.1689

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Amino Acid Sequence
Base Sequence
Child
Child, Preschool
Cohort Studies
DNA Primers / genetics
Exons
Female
France / ethnology
Heterozygote
Humans
Hyperlipoproteinemia Type II / epidemiology
Hyperlipoproteinemia Type II / genetics*
Male
Middle Aged
Molecular Sequence Data
Mutation*
Pedigree
Quebec / epidemiology
Receptors, LDL / genetics*

Substances

DNA Primers
Receptors, LDL