No prescription for despair.
作者信息
Robinson A
出版信息
CMAJ. 1993 Sep 1;149(5):639-43.
Abstract
摘要
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本文引用的文献
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Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics.肝脂肪酶缺乏症。临床、生化及分子遗传学特征。
Arterioscler Thromb. 1993 May;13(5):720-8. doi: 10.1161/01.atv.13.5.720.
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Phenotypic variation of mutations in the human lipoprotein-lipase gene.人类脂蛋白脂肪酶基因突变的表型变异
Biochem Soc Trans. 1993 May;21(2):506-9. doi: 10.1042/bst0210506.
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Homozygous familial hypercholesterolemia among French Canadians in Québec Province.魁北克省法裔加拿大人中的纯合子家族性高胆固醇血症
Arteriosclerosis. 1989 Mar-Apr;9(2):211-6. doi: 10.1161/01.atv.9.2.211.
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A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.一个主要的插入突变在人类脂蛋白脂肪酶缺乏症相关的突变中占很大比例。
Proc Natl Acad Sci U S A. 1989 Feb;86(3):948-52. doi: 10.1073/pnas.86.3.948.
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The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.
Annu Rev Genet. 1990;24:133-70. doi: 10.1146/annurev.ge.24.120190.001025.
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A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians.
N Engl J Med. 1991 Jun 20;324(25):1761-6. doi: 10.1056/NEJM199106203242502.
7
A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.人类脂蛋白脂肪酶基因第188位密码子的错义突变是不同血统人群中脂蛋白脂肪酶缺乏症的常见病因。
J Clin Invest. 1990 Sep;86(3):728-34. doi: 10.1172/JCI114769.
8
Incomplete fatty acid oxidation. The production and epimerization of 3-hydroxy fatty acids.不完全脂肪酸氧化。3-羟基脂肪酸的生成与差向异构化。
J Biol Chem. 1992 Jan 5;267(1):119-25.
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