Three RFLPs at the 3' end of the cystatin C gene, the disease gene in hereditary cystatin C amyloid angiopathy (HCCAA) in Iceland.
作者信息
Palsdottir A, Jonsdottir S, Abrahamson M, Grubb A, Jensson O
机构信息
Blood Bank, Reykjavik, Iceland.
出版信息
Nucleic Acids Res. 1990 Dec 25;18(24):7471. doi: 10.1093/nar/18.24.7471-a.
Abstract
摘要
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Three RFLPs at the 3' end of the cystatin C gene, the disease gene in hereditary cystatin C amyloid angiopathy (HCCAA) in Iceland.胱抑素C基因3'端的三个限制性片段长度多态性，冰岛遗传性胱抑素C淀粉样血管病（HCCAA）的致病基因。
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Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C.编码人半胱氨酸蛋白酶抑制剂胱抑素C前体的cDNA的分子克隆及序列分析
FEBS Lett. 1987 Jun 1;216(2):229-33. doi: 10.1016/0014-5793(87)80695-6.
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Mutation in cystatin C gene causes hereditary brain haemorrhage.
Lancet. 1988 Sep 10;2(8611):603-4. doi: 10.1016/s0140-6736(88)90641-1.
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The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20.人类胱抑素C基因（CST3）在遗传性胱抑素C淀粉样血管病中发生突变，位于20号染色体上。
Hum Genet. 1989 Jun;82(3):223-6. doi: 10.1007/BF00291159.
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Structure and expression of the human cystatin C gene.
Biochem J. 1990 Jun 1;268(2):287-94. doi: 10.1042/bj2680287.
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