Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1992.tb03256.x/fullpdf
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2. Genetics of the quantitative Lp(a) lipoprotein trait III;Boerwinkle;Hum Genet,1989
3. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions;Cooper;Hum Genet,1990
4. Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosome 1 and 17;Defesche;Neurology,1990
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1. Clinical Aspects of Genetic and Non-Genetic Cardiovascular Risk Factors in Familial Hypercholesterolemia;Genes;2022-06-27
2. Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands;Clinical Genetics;2000-02
3. Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia;Clinical Genetics;1999-09
4. Genetic diagnosis of familial hypercholesterolemia in affected relatives using pedigree tracing;Clinical Biochemistry;1996-08
5. Apolipoprotein(a) phenotypes and lipoprotein(a) concentrations in patients with hyperthyroidism;Journal of Molecular Medicine;1995-01
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