Apolipoprotein A2-Mangel
Apolipoprotein A2-Mangel ist dies völlige Fehlen des proteins im Plasma. Dieser Defekt kann laborchemisch nachgewiesen werden, eine Auswirkung auf die Klinik ist nicht bekannt.
Gliederung
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Referenzen:
1. |
Oakey RJ et al. (1992) Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA. [^] |
2. |
Deeb SS et al. (1990) A splice-junction mutation responsible for familial apolipoprotein A-II deficiency. [^] |
3. |
Tsao YK et al. (1985) Isolation and characterization of the human apolipoprotein A-II gene. Electron microscopic analysis of RNA:DNA hybrids, nucleotide sequence, identification of a polymorphic MspI site, and general structural organization of apolipoprotein genes. [^] |
4. |
Rogne S et al. (1989) The genes for apolipoprotein all (APOA2) and the Duffy blood group (FY) are linked on chromosome 1 in man. [^] |
5. |
Scott J et al. (1985) High-density lipoprotein composition is altered by a common DNA polymorphism adjacent to apoprotein AII gene in man. [^] |
6. |
Kessling AM et al. (1988) DNA polymorphisms of the apolipoprotein AII and AI-CIII-AIV genes: a study in men selected for differences in high-density-lipoprotein cholesterol concentration. [^] |
7. |
Lackner KJ et al. (1985) The human apolipoprotein A-II gene: complete nucleic acid sequence and genomic organization. [^] |
8. |
Knott TJ et al. (1985) The human apolipoprotein AII gene: structural organization and sites of expression. [^] |
9. |
Middleton-Price HR et al. (1988) Regional chromosomal localisation of APOA2 to 1q21-1q23. [^] |
10. |
Moore MN et al. (1984) Human apolipoprotein A-II: nucleotide sequence of a cloned cDNA, and localization of its structural gene on human chromosome 1. [^] |
11. |
Knott TJ et al. (1984) Chromosomal localization of the human apoprotein CI gene and of a polymorphic apoprotein AII gene. [^] |
12. |
Lusis AJ et al. (1983) Genetic control of lipid transport in mice. II. Genes controlling structure of high density lipoproteins. [^] |
13. |
Lackner KJ et al. (1984) The human apolipoprotein A-II gene is located on chromosome 1. [^] |
14. |
Warden CH et al. (1993) Evidence for linkage of the apolipoprotein A-II locus to plasma apolipoprotein A-II and free fatty acid levels in mice and humans. [^] |
15. |
Takada D et al. (2002) Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred. [^] |
16. |
Allayee H et al. (2003) Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia. [^] |
17. |
OMIM.ORG article Omim 107670 [^] |