Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Apolipoprotine A2-Amyloidose

Die Apolipoprotein AII-Amyloidose ist eine dominante Erkrankung mit vorrangig renaler Manifestation. Die Erkrankung wird durch APOA2-Mutationen ausgelöst.

Gliederung

Nierenamyloidose
APOA1
Apolipoprotine A2-Amyloidose
APOA2
B2M
CST3
FGA
LYZ

Referenzen:

1.

Deeb SS et al. (1990) A splice-junction mutation responsible for familial apolipoprotein A-II deficiency.

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2.

Allayee H et al. (2003) Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia.

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3.

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.

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4.

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.

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5.

Lackner KJ et al. (1984) The human apolipoprotein A-II gene is located on chromosome 1.

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6.

Lusis AJ et al. (1983) Genetic control of lipid transport in mice. II. Genes controlling structure of high density lipoproteins.

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7.

Knott TJ et al. (1984) Chromosomal localization of the human apoprotein CI gene and of a polymorphic apoprotein AII gene.

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8.

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.

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9.

Middleton-Price HR et al. (1988) Regional chromosomal localisation of APOA2 to 1q21-1q23.

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10.

Knott TJ et al. (1985) The human apolipoprotein AII gene: structural organization and sites of expression.

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11.

Lackner KJ et al. (1985) The human apolipoprotein A-II gene: complete nucleic acid sequence and genomic organization.

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12.

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.

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13.

Scott J et al. (1985) High-density lipoprotein composition is altered by a common DNA polymorphism adjacent to apoprotein AII gene in man.

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14.

Rogne S et al. (1989) The genes for apolipoprotein all (APOA2) and the Duffy blood group (FY) are linked on chromosome 1 in man.

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15.

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.

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16.

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.

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17.

OMIM.ORG article

Omim 107670 external link
18.

Orphanet article

Orphanet ID 238269 external link
Update: 14. August 2020
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