Objective To identify the COL7A1 gene mutation in a family with dy strophic epidermolysis bullosa pruriginosa.
目的鉴定一营养不良型大疱性表皮松解症家系的基因突变,进一步开展基因诊断和基因治疗奠定基础。
Results Of the 23 mutations, 22 were detected by heteroduplex analysis (96%), 20 by SSCP analysis (87%) and 23 by heteroduplex-SSCP analysis (100%).
结果23子突变中ˇ异源双链法、SSCP法与异源双链-SSCP法检出突变分别22(96%)、20(87%)和23(100%)。
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And it's this rapid-fire mutation that makes whipping up a vaccine for this set of viruses a pretty tall order.
正是这种快速突变使得为防打疫苗成为了一个很高要求。
They have classified 0.1% of letter changes, or mutations, as either benign or disease causing.
他们将 0.1% 字母变化或突变归为良性或致性。
Most of these gene mutations are deletions or duplications of one or more exons, and a small amount are point mutations.
基因突变大多数为一个或多个外显子或重复，小部分是点突变。
For example, analysing the genes of a weaponized pathogen as it spreads could give us clues as to where it came from, based on the mutations it develops.
例如，分析一种武器化原体在传播过程中基因，可以根据它产生突变，为我们提供它来自何处线索。
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详细解释
营养不良型大疱性表皮松解症家系的基因突变,
进一步开展基因诊断和基因治疗奠定基础。
子
打疫苗成为了一个很高
字母变化或
性。
或重复，小部分是点
