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- Methods: Nine heterozygous mutation carriers and nine healthy controls were investigated. 方法：调查9名杂合子突变携带者和9名健康对照者。
- Results: Four of 10 patients had a heterozygous mutation, three missense and one deletion, all in the C-terminal domain of RYR1. 结果：4名患者存在杂合突变，3名患者存在错义突变，1名患者存在丢失，所有改变都在RYR1的C端结构域。
- A heterozygous mutation of lipoprotein lipase (LPL) (Pro207Leu) was identified in a 17-year-old girl with hyperchylomicronemia by PCR-SSCP and DNA sequencing. This mutation reduces the LPL catalytic activity and results in hyperchylomicronemia. 以PCR SSCP和DNA测序确定 1例 17岁女孩的脂蛋白脂酶 (LPL)基因为杂合子突变(Pro2 0 7Leu) ,此突变降低了LPL的催化活性和引起高乳糜微粒血症
- Compound heterozygous mutations were identified in the patient: We identified a heterozygous G-to-A transition at nucleotide 1010 in exon 3 of HR leading to the conversion of a glycin residue to a aspartic acid residue at amino acid position 337 (G337D). 结果发现患者HR基因存在两处杂合突变:第3外显子的1010位碱基由鸟嘌呤变为腺嘌呤,使第337位氨基酸由甘氨酸突变为天冬氨酸(G337D);
- Keywords hereditary pancreatitis;mutation of PRSS1;heterozygous mutation;multisite;clinical phenotype; 遗传性胰腺炎;PRSS1基因突变;杂合子突变;多位点;临床表型;
- Our teacher has mutation of sounds suddenly. 我们的老师突然语音发生了变化。
- heterozygous mutation 杂合性突变
- Two Heterozygous Mutations of F8 gene in a Female with Moderate Hemophilia A 对一例中型女性血友病A患者的基因突变研究
- Formation or development of a mutation. 变异的形成或者发展
- To undergo or cause to undergo mutation. 经历变化或使经历变化
- Heterozygous Having two different alleles at a given locus. 杂合性：在一个基因位点上具有两个不同的等位基因。
- Mutation are produced by a number of chemicals. 许多化学试剂能产生突变。
- What matter is not innovation, but useful mutation? 二.;任何领域都可以创新三
- A new breeding method of space mutation. 一种航天育种的方法。
- High sense mutation of HVR 1 gene was found. （4）HVR1基因有义突变率相当高。
- BCP mutation may impair HBeAg expression. BCP双突变对HBeAg的表达有一定影响 ;
- Ion beam mutation has significant bio-effect. 摘要离子诱变具有显著的生物学效应。
- It is a missense mutation in exon III. 它是位于外显子III的错义突变。
- Certain autosomal translocations in the heterozygous state can be fully viable. 呈杂合子状态的某些常染色体易位完全可以生活的。
- I switched to ETV even I did not have LMV mutation. 在拉米因引起变异之前我就换了药。
