Homozygous Tangier disease and cardiovascular disease
作者： C. Serfaty-Lacrosniere , F. Civeira , A. Lanzberg , P. Isaia , J. Berg
DOI: 10.1016/0021-9150(94)90144-9
关键词:
摘要: Decreased levels of plasma high density lipoprotein (HDL) cholesterol have been associated with premature cardiovascular disease (CVD). Tangier disease is an autosomal co-…
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sci-hub.se 参考文章(82)
Donald S. Fredrickson, James B. Wyngaarden, John B. Stanbury, The metabolic basis of inherited disease ,(1972)
Kenichiro Iwamura, Kazuyoshi Fujii, Hirosato Miyake, Kazuo Tarao, Japanese adult siblings with Tangier disease and statistical analysis of reported cases. The Tokai journal of experimental and clinical medicine. ,vol. 9, pp. 379- 387 ,(1984)
Robert A. Norum, Trudy M. Forte, Petar Alaupovic, Henry N. Ginsberg, Clinical syndrome and lipid metabolism in hereditary deficiency of apolipoproteins A-I and C-III, variant 1. Advances in Experimental Medicine and Biology. ,vol. 201, pp. 137- 149 ,(1986) , 10.1007/978-1-4684-1262-8_13
Jose M. Ordovas, Ernst J. Schaefer, Metabolism of apolipoproteins A-I, A-II, and A-IV Methods in Enzymology. ,vol. 129, pp. 420- 443 ,(1986) , 10.1016/0076-6879(86)29083-7
D. S. Fredrickson, V. J. Ferrans, The pathology of Tangier disease. A light and electron microscopic study. American Journal of Pathology. ,vol. 78, pp. 101- 158 ,(1975)
S T Kunitake, S G Young, G C Chen, C R Pullinger, S Zhu, R J Pease, J Scott, P Hass, J Schilling, J P Kane, Conformation of apolipoprotein B-100 in the low density lipoproteins of tangier disease. Identification of localized conformational response to triglyceride content. Journal of Biological Chemistry. ,vol. 265, pp. 20739- 20746 ,(1990) , 10.1016/S0021-9258(17)45278-1
S.S. Deeb, M.C. Cheung, R.L. Peng, A.C. Wolf, R. Stern, J.J. Albers, R.H. Knopp, A mutation in the human apolipoprotein A-I gene. Dominant effect on the level and characteristics of plasma high density lipoproteins. Journal of Biological Chemistry. ,vol. 266, pp. 13654- 13660 ,(1991) , 10.1016/S0021-9258(18)92750-X
A von Eckardstein, H Funke, M Walter, K Altland, A Benninghoven, G Assmann, Structural analysis of human apolipoprotein A-I variants. Amino acid substitutions are nonrandomly distributed throughout the apolipoprotein A-I primary structure. Journal of Biological Chemistry. ,vol. 265, pp. 8610- 8617 ,(1990) , 10.1016/S0021-9258(19)38931-8
Harry N. Hoffman, Donald S. Fredrickson, Tangier disease (familial high density lipoprotein deficiency). Clinical and genetic features in two adults. The American Journal of Medicine. ,vol. 39, pp. 582- 593 ,(1965) , 10.1016/0002-9343(65)90081-1
J M Ordovas, D K Cassidy, F Civeira, C L Bisgaier, E J Schaefer, Familial apolipoprotein A-I, C-III, and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11. Journal of Biological Chemistry. ,vol. 264, pp. 16339- 16342 ,(1989) , 10.1016/S0021-9258(19)84708-7