Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities.
作者信息
Sainz J, Minassian B A, Serratosa J M, Gee M N, Sakamoto L M, Iranmanesh R, Bohlega S, Baumann R J, Ryan S, Sparkes R S, Delgado-Escueta A V
出版信息
Am J Hum Genet. 1997 Nov;61(5):1205-9. doi: 10.1086/301596.
Abstract
摘要
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本文引用的文献
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Parametric and nonparametric linkage analysis: a unified multipoint approach.参数和非参数连锁分析：一种统一的多点方法。
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A comprehensive genetic map of the human genome based on 5,264 microsatellites.基于5264个微卫星构建的人类基因组综合遗传图谱。
Nature. 1996 Mar 14;380(6570):152-4. doi: 10.1038/380152a0.
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The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.拉福拉型进行性肌阵挛癫痫的基因定位于6号染色体长臂。
Hum Mol Genet. 1995 Sep;4(9):1657-63. doi: 10.1093/hmg/4.9.1657.
4
Amino acid polymorphisms of the human L-isoaspartyl/D-aspartyl methyltransferase involved in protein repair.参与蛋白质修复的人类L-异天冬氨酸/D-天冬氨酸甲基转移酶的氨基酸多态性
Biochem Biophys Res Commun. 1994 Aug 30;203(1):491-7. doi: 10.1006/bbrc.1994.2209.
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A YAC contig map of the human genome.人类基因组的酵母人工染色体连续克隆系图谱。
Nature. 1995 Sep 28;377(6547 Suppl):175-297. doi: 10.1038/377175a0.
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Linkage of plasma alpha-L-fucosidase (FUCA2) and the plasminogen (PLG) system.血浆α-L-岩藻糖苷酶（FUCA2）与纤溶酶原（PLG）系统的关联。
Clin Genet. 1984 Jul;26(1):23-9. doi: 10.1111/j.1399-0004.1984.tb00782.x.
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Lafora's disease. Clinical, histological ultrastructural and biochemical study.拉福拉病。临床、组织学、超微结构及生化研究。
Acta Neurol (Napoli). 1980 Dec;2(6):466-75.
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Myoclonic epilepsy with lafora bodies. Some ultrastructural, histochemical, and biochemical aspects.伴有拉福拉小体的肌阵挛性癫痫。一些超微结构、组织化学和生物化学方面的内容。
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Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea.肌阵挛性癫痫（拉福拉体形式）的研究。II. 肌阵挛性癫痫全身沉积物和淀粉样体中的多聚葡萄糖
Neurology. 1970 Feb;20(2):160-76. doi: 10.1212/wnl.20.2.160.
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