proline has been researched along with Hyperlipoproteinemia Type II in 4 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 2 (50.00) | 18.2507 |
2000's | 1 (25.00) | 29.6817 |
2010's | 1 (25.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Fajkusová, L; Freiberger, T; Pavloušková, J; Réblová, K; Tichý, L | 1 |
Bourbon, M; Fowler, AM; Soutar, AK; Sun, XM | 1 |
Aegerter, P; Boileau, C; Devillers, M; Junien, C; Krempf, M; Rabès, JP; Varret, M; Villéger, L | 1 |
Gudnason, V; Humphries, S; King-Underwood, L; Knight, B; Patel, D; Seed, M; Soutar, A | 1 |
1 review(s) available for proline and Hyperlipoproteinemia Type II
Article | Year |
---|---|
R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.
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 |
3 other study(ies) available for proline and Hyperlipoproteinemia Type II
Article | Year |
---|---|
Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor.
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.
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.
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 |