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- Two missense mutations were previously reported in CCD patients. 2个错义突变曾经报道过。
- Both frameshift and missense mutations can be suppressed by intragenic suppressors. 移码突变和异义突变都能被基因内抑制基因所抑制。
- In ten patients, molecular studies revealed six novel missense mutations and three previously reported changes in GFAP. 十位患者分子水平的研究揭示神经胶质酸性蛋白有六个异常的错义突变和三个先前已报道的改变。
- It is caused by missense mutations in various genes that code for sarcomereic proteins such as myosin. 此病主要为构成肌节的不同蛋白质的基因发生突变而造成，比如说肌凝蛋白(myosin)。
- It is a missense mutation in exon III. 它是位于外显子III的错义突变。
- Five missense mutations in the most commonly altered PTP (PTPRT) were biochemically examined and found to reduce phosphatase activity. 对在最常改变的PTP(PTPRT)中的5个错义突变进行了生化检测并发现磷酸酶活性下降。
- Results: We found 4 mutations in 36 schwwannomas, all in acoustic neuroma.Of them, two frameshift mutations and two missense mutations. 结果：我们共发现4例突变，均为听神经瘤，其中移码突变2例、反义突变2例。
- PCSK9 has many sequence variations. Several missense mutations(e.g.S127R and F216L)in PCSK9 are associated with an autosomal dominant form of hypercholesterolemia(ADH). PCSK9基因有多种序列变异,如错义突变S127R和F216L可引起常染色体显性高胆固醇血症;
- There were 2 missense mutations between yak and Chinese Simmental, 5 between yak and mall-tail Han sheep, more than that between yak and Chinese Simmental. 牦牛序列与小尾寒羊序列有5处错义突变，错义突变位点数多于中国西门塔尔牛与小尾寒羊序列间的错义突变位点数。
- Huang FD，Chen J，Lin M，et al：Long-QT syndrome associated missense mutations in the pore Helix of the HERG potassium channel. Circulation 2001；104：1071-5. 李剑锋、王俊、胡大一等.;经胸腔镜切除左胸交感神经治疗先天性Q-T间期延长综合征
- Conclusions: We describe a new missense mutation (A224 -G, Tyr75 -Cys) in the GCHl gene. Mutations in the coding region of the gene account for a part of patients with DRD. 2003届硕士研究生论文结论:我们描述了一个新的错义突变(T”75一Cys)，GcHI基因编码区突变能解释部分DRD患者的发病.
- The missense mutation between adr NC-1 and adw or ayw is higher than between the different strains of adr. 不同亚型间的错义突变比同一亚型不同毒株间的错义突变多。
- Conclusion The missense mutation of LPL may play a key role in the decrease of LPL activity. 结论LPL基因在该位置的突变可能是导致患者LPL活性显著降低和血清甘油三酯增高的原因。
- Conclusion T313M missense mutation of PINK1 gene is rare in Chinese sporadic patients with PD. 结论PINK1基因T313M错义突变不大可能是中国散发性帕金森病患者的突变热点。
- There was only one missense mutation out of 5 mutation sites which led to the shift between leu and val amino. 5个变异位点中仅有1个为错义突变，导致亮氨酸和缬氨酸的转换，但该突变在牛种中分布有差异。
- Myocilin Ser341Pro missense mutation has not been reported before, so it may be a novel disease-causing mutation. 4. 3.;MYOC/TIGR基因Ser341Pro错义突变经检索未见报道，可能为一种新的致病性突变；4
- DNA damage caused by many factors may lead to missense mutation,deletion or illegal recombination. 多种因素可以引起DNA损伤而最终导致基因产生错义突变、缺失或错误重组。
- DNA damage caused by many factors may lead to missense mutation, deletion or illegal recombination. 摘要多种因素可以引起DNA损伤而最终导致基因产生错义突变、缺失或错误重组。
- RT PCR showed that all samples expressed HCP gene, only one missense mutation at codon 225 (AAC to AGC, Asn to Ser) within N terminal SH2 domain was found in an ALL patient. RT PCR显示所有标本中都有HCP基因表达 ,仅在 1例急性淋巴细胞性白血病细胞中发现一错义突变 ,发生在HCP基因氨基末端的SH2结构域 ;
- We describe a new missense mutation (Tyr75Cys) in the GCH1 gene. Mutation in the coding region of the gene might be accounted for a part of patients with DRD. 我们描述了一个新的错义突变Tyr75Cys,GCH1基因编码区突变能解释部分DRD患者的发病原因。
