proline and Hyperlipoproteinemia Type II

proline has been researched along with Hyperlipoproteinemia Type II in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (50.00)18.2507
2000's1 (25.00)29.6817
2010's1 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Fajkusová, L; Freiberger, T; Pavloušková, J; Réblová, K; Tichý, L1
Bourbon, M; Fowler, AM; Soutar, AK; Sun, XM1
Aegerter, P; Boileau, C; Devillers, M; Junien, C; Krempf, M; Rabès, JP; Varret, M; Villéger, L1
Gudnason, V; Humphries, S; King-Underwood, L; Knight, B; Patel, D; Seed, M; Soutar, A1

Reviews

1 review(s) available for proline and Hyperlipoproteinemia Type II

ArticleYear
R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.
    Arteriosclerosis, thrombosis, and vascular biology, 2000, Volume: 20, Issue:10

    Topics: Adolescent; Adult; Aged; Apolipoproteins B; Child; Child, Preschool; Cholesterol, LDL; Female; Haplotypes; Heterozygote; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hyperlipoproteinemia Type II; Leucine; Lod Score; Male; Middle Aged; Mutation; Nuclear Family; Pedigree; Polymorphism, Restriction Fragment Length; Proline; Receptors, LDL

2000

Other Studies

3 other study(ies) available for proline and Hyperlipoproteinemia Type II

ArticleYear
Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor.
    Atherosclerosis, 2016, Volume: 250

    Topics: Animals; Arginine; CHO Cells; Cricetinae; Cricetulus; Endoplasmic Reticulum; Glycine; Heterozygote; Humans; Hyperlipoproteinemia Type II; Leucine; Microscopy, Confocal; Mutation; Pedigree; Proline; Protein Folding; Protein Sorting Signals; Protein Structure, Secondary; Receptors, LDL

2016
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, Volume: 56, Issue:3

    Topics: Alleles; Base Sequence; DNA Primers; Female; Genetic Markers; Homozygote; Humans; Hyperlipoproteinemia Type II; Leucine; Male; Microsatellite Repeats; Pedigree; Point Mutation; Proline; Receptors, LDL

1999
Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK.
    Clinical genetics, 1991, Volume: 40, Issue:1

    Topics: Adolescent; Adult; Base Sequence; Codon; Female; Genetic Carrier Screening; Haplotypes; Humans; Hyperlipoproteinemia Type II; Leucine; Male; Middle Aged; Molecular Sequence Data; Mutation; Pedigree; Polymerase Chain Reaction; Polymorphism, Genetic; Proline; Receptors, LDL; United Kingdom

1991