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Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1.

作者信息

Buckel A, Beeson D, James M, Vincent A

机构信息

Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, United Kingdom.

出版信息

Genomics. 1996 Aug 1;35(3):613-6. doi: 10.1006/geno.1996.0409.

DOI:10.1006/geno.1996.0409
PMID:8812503
Abstract

We have isolated and sequenced cDNA clones for the human 43-kDa acetylcholine receptor-associated protein rapsyn. The cDNA encodes a 412-amino-acid protein that has a predicted molecular mass of 46,330 Da and shows 96% sequence identity with mouse rapsyn. Analysis of PCR amplifications, first from somatic cell hybrids and subsequently from radiation hybrids, localizes the human RAPSN gene locus to chromosome 11p11.2-p11.1 in close proximity to ACP2.

摘要

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Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1.
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Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.人类中的Rapsyn突变会导致终板乙酰胆碱受体缺乏和重症肌无力综合征。
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