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英语翻译Title:Transthyretinamyloidosisassociatedwithanovelvariant(Trp41Leu)presentingwithvitreousopacities(ABSTRACTAVAILABLE)标题:转淀粉样变与一个新的变种(trp41leu)提出与玻璃体混浊(摘要)Abstract:W

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英语翻译
Title:Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities ( ABSTRACT AVAILABLE )
标题:转淀粉样变与一个新的变种(trp41leu)提出与玻璃体混浊(摘要)
Abstract:We report a 45-year-old woman with a new transthyretin (TTR) variant,substitution of leucine for tryptophan at residue 41,who has showed vitreous opacities without any other visceral organ involvement since age of 42.Congo red staining of vitrectomy specimens revea that the vitreous fluid contained amyloid fibrils,which were strongly positive for immunohistochemical staining using anti-human TTR antiserum.DNA analysis of the TTR gene showed a G to T transversion at the second nucleotide of codon 41,indicating a replacement of tryptophan (TGG) by leucine (TTG).These results indicate that the patient 's vitreous amyloid is-associated with this novel TTR mutation.
摘要:我们报告一个45岁的女子与一个新的转变(TR)变异,换人亮氨酸的色氨酸残留41,谁表明玻璃体混浊没有任何其他内脏器官的参与自42岁.刚果红染色玻璃体切除标本揭示,玻璃液含有淀粉体纤维,这是强烈的积极的免疫组织化学染色用抗人备抗血清.分析的TR基因显示克不颠换在二核苷酸密码子41,表明更换色氨酸(在)亮氨酸(酶).这些结果表明,病人的玻璃体淀粉样相关小说突变碳带.
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