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Journal Abstract Search


806 related items for PubMed ID: 1737840

  • 1. Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met).
    Klein HG, Lohse P, Pritchard PH, Bojanovski D, Schmidt H, Brewer HB.
    J Clin Invest; 1992 Feb; 89(2):499-506. PubMed ID: 1737840
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  • 2. T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease.
    Miida T, Zhang B, Obayashi K, Seino U, Zhu Y, Ito T, Nakamura Y, Okada M, Saku K.
    Clin Chim Acta; 2004 May; 343(1-2):201-8. PubMed ID: 15115696
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  • 3. A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease.
    Contacos C, Sullivan DR, Rye KA, Funke H, Assmann G.
    J Lipid Res; 1996 Jan; 37(1):35-44. PubMed ID: 8820100
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  • 4. Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn).
    Klein HG, Lohse P, Duverger N, Albers JJ, Rader DJ, Zech LA, Santamarina-Fojo S, Brewer HB.
    J Lipid Res; 1993 Jan; 34(1):49-58. PubMed ID: 8445342
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  • 5. Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis.
    Klein HG, Santamarina-Fojo S, Duverger N, Clerc M, Dumon MF, Albers JJ, Marcovina S, Brewer HB.
    J Clin Invest; 1993 Jul; 92(1):479-85. PubMed ID: 8326012
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  • 6. The role of high density lipoproteins in lecithin:cholesterol acyltransferase activity: perspectives from Tangier disease.
    Assmann G, Schmitz G, Heckers H.
    Scand J Clin Lab Invest Suppl; 1978 Jul; 150():98-102. PubMed ID: 218282
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  • 9. Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop).
    Guerin M, Dachet C, Goulinet S, Chevet D, Dolphin PJ, Chapman MJ, Rouis M.
    Atherosclerosis; 1997 May; 131(1):85-95. PubMed ID: 9180249
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  • 14. Inhibitory effect of normal high density lipoproteins on lecithin:cholesterol acyltransferase activity in fish eye disease plasma.
    Holmquist L, Carlson LA.
    Acta Med Scand; 1987 May; 222(1):15-21. PubMed ID: 3630774
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  • 15. Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease.
    Carlson LA, Holmquist L.
    Acta Med Scand; 1985 May; 218(2):189-96. PubMed ID: 4061122
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  • 16. Two novel molecular defects in the LCAT gene are associated with fish eye disease.
    Kuivenhoven JA, Stalenhoef AF, Hill JS, Demacker PN, Errami A, Kastelein JJ, Pritchard PH.
    Arterioscler Thromb Vasc Biol; 1996 Feb; 16(2):294-303. PubMed ID: 8620346
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  • 20. Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea.
    Blanco-Vaca F, Qu SJ, Fiol C, Fan HZ, Pao Q, Marzal-Casacuberta A, Albers JJ, Hurtado I, Gracia V, Pintó X, Martí T, Pownall HJ.
    Arterioscler Thromb Vasc Biol; 1997 Jul; 17(7):1382-91. PubMed ID: 9261271
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