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The result of uroscopy of the proband was strong positive. There was a novel deletion mutation of c.876-877 del TC in the coding region of exon 6 of IDS gene, which was a hemizygous mutation. However, the mutation of his mother and sister was a heterozygous mutation. Detection of the exon 6 of IDS gene showed that the mutation was not found among normal controls and other patients with MPS I, IV, and VI other than MPS II. Homology comparison of amino acid sequences from different species showed that the phenylalanine glutamine of the mutation site of c.876-877 del TC located in p.292-293 was highly conserved. The activity of IDS enzyme of the proband was only 2.3 nmol/4 h/mL, which was much lower than normal; but the activity of IDS enzyme of his father, mother and sister was 641.9 nmol/4 h/mL, 95.8 nmol/4h/mL and 103.2 nmol/4h/mL, respectively.

结果显示:证者尿检呈强阳性;其IDS基因exon 6编码区内存在c.876-877 del TC新缺失突变,为半合子突变,而其母、其姐为杂合突变;正常对照和其他非II型MPS患者的IDS基因exon 6的检测结果均未发现该突变;不同物种氨基酸序列的同源性比对显示: c.876-877 del TC突变所在的位置即p.292-293的苯丙氨酸谷氨酰胺高度保守;酶活性测定的结果显示:证者的IDS酶活性仅为2.3 nmol/4 h/mL,大大低于正常值,而其父的为641.9 nmol/4 h/mL,其母的血浆酶活性为95.8 nmol/ 4h/mL,其姐的为103.2 nmol/4 h/mL。

I vill exercise and then study, or vice versa.

我会锻炼然后学习,或者学习后锻炼

Quick pass we proposed in the paper is an effective way to reduce the waiting time of the queue system.

提出了一种新的排队规则,即顾客到达是两个独立的泊松过程,在排队系统中引入快速通道,服务机制为修正的服务,一个群体服务台,成批接受定长服务。

Always attach plug to appliance first, then plug cord into the wall outlet. To disconnect, turn any control to off, then remove plug from wall outlet.

一般将插头装置在电器上,然后插入插座中,断开电源时,将电器的控制开关关闭,然后从插座中取出插头。

First, we briefly introduce the domestic network technology and the information industries situation as well as the research situation, elaborate the solution of on-line meal ordering system as well as its significance.

包售后,包通过,保证唯一支持百付宝/淘宝交易,货后款。此处列出的仅为论文摘要,如需此套论文,联系QQ 810354974 (注:加为好友,再联系)摘要越来越多的人接受了电子商务这种便捷?

One patient received Whipple surgery before local irradiation, and one received chemotherapy prior to local irradiation.

有一位病人在接受局部放射线治疗前接受了Whipple手术,还有一位病人在治疗前接受化学治疗。

It is wry-necked, using first one eye and then another to observe the scene. It stays alert all the time, and whenever a visitor comes, it will announce the guest.

歪着脑袋,用一只眼,再用另只眼观察,它始终保持警觉,一有客人来访,它总会通报一声。

"Gengrui first : Let farmers villa with living wage" is May 1 of the "China Youth Daily" reported in 2004 China 54 youth worker, Xinxiang City, Henan Province, secretary of the party branch Geng Village, the village committee director Gengrui first used in the advanced deeds colours title.

"耿瑞:让农民住别墅拿工资",是5月1日《中国青年报》报道2004年中国五四青年奖章获得者、河南省新乡市耿庄村党支部书记、村委会主任耿瑞进事迹时所用的夺目的标题。

Protein phosphorylation and dephosphorylation and zymogen activation are two very important regulation mechanism for enzyme activity and function.

本文第三章对蛋白激酶催化磷酸化酶活化的三种可能机制—随机激活模型和ATP与激酶结合的顺序结合激活模型及ATP与蛋白底物结合,再与激酶结合的模型给予解析。

Results The activity of FⅫ were 52.5%, 78.6% and 89% for the proband, his father and mother, respectively. Direct sequencing suggested that the proband was 46 T/T genotype in exon1, while both his parents were 46 C/T genotype in the same alle.

结果 证者及其父、母FⅫ:C分别是52.5%、78.6%、89%,直接测序结果提示证者F12基因的第1外显子46位碱基即启动子上游-4位为T/T基因型,其父、母在该位点均为C/T基因型。

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This one mode pays close attention to network credence foundation of the businessman very much.

这一模式非常关注商人的网络信用基础。

Cell morphology of bacterial ghost of Pasteurella multocida was observed by scanning electron microscopy and inactivation ratio was estimated by CFU analysi.

扫描电镜观察多杀性巴氏杆菌细菌幽灵和菌落形成单位评价遗传灭活率。

There is no differences of cell proliferation vitality between labeled and unlabeled NSCs.

双标记神经干细胞的增殖、分化活力与未标记神经干细胞相比无改变。