| 1 | CCLD, CCLD
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| Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.
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| Asl LH, et al.
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| Am J Pathol 154(1):221-7. 1999
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| 2 | CCLD
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| Compound heterozygosity for an apolipoprotein A1 gene promoter mutation and a structural nonsense mutation with apolipoprotein A1 deficiency.
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| Matsunaga A, et al.
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| Arterioscler Thromb Vasc Biol 19(2):348-55. 1999
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| 3 | CCLD
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| Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I.
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| Persey MR, Booth DR, Booth SE, van Zyl-Smit R, Adams BK, Fattaar AB, Tennent GA, Hawkins PN, Pepys MB.
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| Kidney Int 53(2):276-81. 1998
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| 4 | APOA1, CCLD
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| A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency.
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| Huang W, Sasaki J, Matsunaga A, Nanimatsu H, Moriyama K, Han H, Kugi M, Koga T, Yamaguchi K, Arakawa K.
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| Arterioscler Thromb Vasc Biol 18(3):389-96.
1998
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| 5 | CCLD
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| A novel polymorphism (1121 C/T) in intron 3 of the human apolipoprotein A-I gene.
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| Motti C, et al.
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| Clin Genet 51 : 127-128. 1997
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| 6 | CCLD
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| Apolipoprotein A-I Q(-2)X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.
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| Ng DS, et al.
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| J Clin Invest 93 : 223-229. 1994
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| 7 | CCLD
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| Characterization of genetic markers in the 5' flanking region of the apo A1 gene.
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| Shoulders CC, et al.
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| Hum Genet 91 : 197-198. 1993
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| 8 | CCLD
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| Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.
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| Nakata K, et al.
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| Biochem Biophys Res Commun 196 : 950-955. 1993
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| 9 | CCLD, CBL, D11S144, CASP1, HMBS
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| Five sequence tagged sites for human chromosome band 11q23.
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| Perry H, et al.
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| Hum Mol Genet 2 : 614. 1993
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| 10 | CCLD
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| Polymorphism in the human apolipoprotein A-I gene promoter region. Association of the minor allele with decreased rate in vivo and promoter activity in vitro.
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| Smith JD, et al.
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| J Clin Invest 89 : 1796-1800. 1992
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| 11 | CCLD, CCLD
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| Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis.
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| Soutar AK, et al.
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| Proc Natl Acad Sci U S A 89 : 7389-7393. 1992
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| 12 | CCLD
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| Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.
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| Matsunaga T, et al.
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| Proc Natl Acad Sci U S A 88 : 2793-2797. 1991
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| 13 | CCLD
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| A mutation in the human apolipoprotein A-I gene. Dominant effect on the level and characteristics of plasma high density lipoproteins.
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| Deeb SS, et al.
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| J Biol Chem 266 : 13654-13660. 1991
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| 14 | CCLD
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| A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities.
|
| Funke H, et al.
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| J Clin Invest 87 : 371-376. 1991
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| 15 | CCLD
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| The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family.
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| Kastelein JJP, et al.
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| Hum Genet 84 : 396-400. 1990
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| 16 | CCLD
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| Assignment of the apolipoprotein A-I gene to 11q23 based on RFLP in a case with a partial deletion of chromosome 11, del(11)(q23.3-qter).
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| Arinami T, et al.
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| Hum Genet 85 : 39-40. 1990
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| 17 | CCLD
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| A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy.
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| Nichols WC, et al.
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| Genomics 8 : 318-323. 1990
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| 18 | CCLD
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| Apolipoprotein A-I gene polymorphisms: frequency in patients with coronary artery disease and healthy controls and association with serum apo A-I and HDL-cholesterol concentration.
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| Wile DB, et al.
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| Atherosclerosis 78 : 9-18. 1989
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| 19 | CCLD
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| Variant apolipoprotein AI as a major constituant of a human hereditary amyloid.
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| Nichols WC, et al.
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| Biochem Biophys Res Commun 156 : 762-768. 1988
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| 20 | CCLD
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| A BanII dimorphic site located in the third intron of the human apolipoprotein AI (APOA1) gene.
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| Coleman RT, et al.
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| Nucleic Acids Res 16 : 1221 1988
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| 21 | CCLD
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| Regional assignment of the apolipoprotein A-I gene by in situ hybridization to human chromosome 11q23-qter.
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| Sparkes RS, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 697. 1987
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| 22 | CCLD, CAT
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| Localization of the human catalase and apolipoprotein A-I genes to chromosome 11.
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| Schroeder WT, et al.
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| Cytogenet Cell Genet 44 : 231-233. 1987
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| 23 | CCLD
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| ApaI RFLP 5.4 kb 5' to the human apolipoprotein AI (APO A1) gene.
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| Frossard PM, et al.
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| Nucleic Acids Res 14 : 1922. 1986
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| 24 | CCLD
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| Isolation and DNA sequence of full-length cDNA and of the entire gene for human apolipoprotein AI-discovery of a new genetic polymorphism in the apo A1 gene.
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| Seilhamer JJ, et al.
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| DNA 3 : 309-317. 1984
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| 25 | CCLD
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| Localization of the structural gene for human apolipoprotein A-1 on the long arm of human chromosome 11.
|
| Cheung P, et al.
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| Proc Natl Acad Sci U S A 81 : 508-511. 1984
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| 26 | CCLD
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| Tangier disease.
|
| Fredrickson DS, et al.
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| Ann Intern Med 55 : 1016-1031. 1961
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