神经元烟碱型乙酰胆碱受体基因α4亚基内的单链构象多态性变异体 - Suppr

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超能文献

SSCP variants within the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor gene.

作者信息

Phillips H A, Mulley J C

机构信息

Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, Australia.

出版信息

Clin Genet. 1997 Feb;51(2):135-6. doi: 10.1111/j.1399-0004.1997.tb02439.x.

DOI:10.1111/j.1399-0004.1997.tb02439.x

PMID:9112007

Abstract

摘要

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A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.神经元烟碱型乙酰胆碱受体α4亚基的错义突变与常染色体显性遗传性夜间额叶癫痫相关。

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Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy.对一组具有代表性的受常染色体显性遗传性夜间额叶癫痫影响的意大利先证者进行烟碱型乙酰胆碱受体β2亚基基因（CHRNB2）的突变分析。

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