Clinical utility gene card for: Abetalipoproteinaemia.
作者信息
Burnett John R, Bell Damon A, Hooper Amanda J, Hegele Robert A
机构信息
Department of Core Clinical Pathology & Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Western Australia, Australia.
出版信息
Eur J Hum Genet. 2012 Aug;20(8). doi: 10.1038/ejhg.2012.30. Epub 2012 Feb 29.
Abstract
摘要
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本文引用的文献
1
Abetalipoproteinemia: two case reports and literature review.无β脂蛋白血症：两例报告及文献综述。
Orphanet J Rare Dis. 2008 Jul 8;3:19. doi: 10.1186/1750-1172-3-19.
2
Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism.单基因低胆固醇血症性脂质紊乱与载脂蛋白B代谢
Crit Rev Clin Lab Sci. 2005;42(5-6):515-45. doi: 10.1080/10408360500295113.
3
Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients.联合维生素A和E治疗预防无β脂蛋白血症和低β脂蛋白血症患者视网膜变性的长期评估
Eye (Lond). 2001 Aug;15(Pt 4):525-30. doi: 10.1038/eye.2001.167.
4
The role of the microsomal triglygeride transfer protein in abetalipoproteinemia.微粒体甘油三酯转运蛋白在无β脂蛋白血症中的作用。
Annu Rev Nutr. 2000;20:663-97. doi: 10.1146/annurev.nutr.20.1.663.
5
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.无β脂蛋白血症中微粒体甘油三酯转运蛋白基因的突变
Am J Hum Genet. 1995 Dec;57(6):1298-310.
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Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.与无β脂蛋白血症相关的微粒体甘油三酯转移蛋白的克隆及基因缺陷
Nature. 1993 Sep 2;365(6441):65-9. doi: 10.1038/365065a0.
7
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.无β脂蛋白血症是由微粒体甘油三酯转移蛋白97 kDa亚基编码基因的缺陷引起的。
Hum Mol Genet. 1993 Dec;2(12):2109-16. doi: 10.1093/hmg/2.12.2109.
8
Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia.大剂量口服维生素E对无β脂蛋白血症患者神经后遗症的影响。
Ann N Y Acad Sci. 1982;393:133-44. doi: 10.1111/j.1749-6632.1982.tb31239.x.
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