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- We report the mutation analysis of a Taiwanese family with X-linked DKC. 我们报告一位 X 遗传先天性角化不良症家族的基因突变分析。
- First of all, mutation analysis of Duchenne muscular dystrophy (DMD) gene was carried out by CE coupled with multi-PCR technique. 在医学领域主要表现为以基因突变检测,基因家系连锁分析,特定基因的PCR产物直接检测为基础的基因诊断。
- Methods Mutation analysis of the Cx32, MPZ and PMP22 genes were performed by PCR-RFLP, PCR-SSCP , PCR-DGGE and/or direct sequencing in 32 CMT probands of the Hans in China. 方法 分别应用PCR 双酶切、聚合酶链反应 单链构象多态性分析 (PCR SSCP)、聚合酶链反应 变性梯度凝胶电泳 (PCR DGGE)或PCR直接测序等方法对 32个确诊的CMT家系进行了PMP2 2、MPZ、Cx32等致病基因的突变检测。
- Objective To report a large Chinese family with central areolar macular dystrophy and to identify its genetic entity by mutation analysis of candidate genes. 目的 报道一个少见的中国人中心晕轮状黄斑营养障碍家系,通过候选基因突变分析探讨该家系发病的分子遗传学基础。
- Nelson H, Nelson N. title Cloning and mutational analysis of t ... 而在NCBI上的人体驱动蛋白马达域的 ...
- Methods Four members of a DRD family were performed phenylalanine(Phe) and BH 4 loading test as well as urinary pterin analysis. Mutation analysis of GTP cyclohydrolase 1 gene(GCH1) was done in all family members. 方法 对DRD的一家系 4人进行苯丙氨酸 (Phe)和BH4负荷试验、尿蝶呤谱分析 ,对所有成员进行三磷酸鸟苷环化水解酶 1基因 (GCH1)检测。
- Methods Mutation analysis of TH gene was performed in 5 probands with AR-DRD and 2 sporadic patients with DRD by use of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combining DNA direct sequencing. 方法 应用聚合酶链反应 -单链构象多态性技术和 DNA序列分析方法对 5个 AR- DRD家系的先证者和两例散发DRD患者进行 TH基因突变分析。
- The object constraint language(OCL),a formal language used to describe expressions on UML models and the elementary theory of specification-based mutation analysis are in-troduced. 介绍辅助UML建模的对象约束语言(OCL)和基于规格变异分析的基本理论。提出一种新型的OCL规格变异系统的设计方案,并详细描述了一些变异算子的具体实现。
- Potentially, BRAF mutation analysis of sentinel lymph node (SLN) biopsies could enhance the detection of micrometastases and improve the accuracy of nodal staging for patients with melanoma. 理论上,对前哨淋巴结(SLN)的活检组织进行BRAF基因突变分析,能提高淋巴结微转移的检出率和黑色素瘤患者淋巴结分期的精确度。
- Objective To study the sensitivity and specificity of gene mutational analysis. 目的本文对脊肌萎缩症基因诊断的敏感性与特异性进行了研究。
- Keywords synpolydactyly;HOXD13;mutation analysis; 关键词先天性并(多)指(趾);HOXD13;突变分析;
- Keywords EOP;DHPLC;PINK1 gene;mutation analysis; 早发性帕金森综合征;DHPLC;PINK1基因;突变分析;
- The molecular diagnosis for X-linked adrenoleukodystrophy (ALD) using mutational analysis at genomic DNA level is important. 摘要在基因组DNA水平,应用基因突变分析的方法对肾上腺脑白质营养不良进行分子诊断十分重要。
- Our teacher has mutation of sounds suddenly. 我们的老师突然语音发生了变化。
- Methods 20 non-syndromic hearing loss (NSHL) cases were performed mutational analysis of the GJB2 coding region by PCR-direct sequencing. 方法采用PCR直接测序法对20个非综合征型遗传性聋家系的先证者(均为耳聋患者)进行GJB2基因的突变检测。
- Melanomas were chosen as the first cancer type. The study is the first systematic mutational analysis of the MMP family, say the authors. 黑色素瘤是选取(进行分析)的第一种肿瘤。这一研究是第一次对MMP基因族进行系统分析,作者说。
- Methods 20 non-syndromic hearing loss (NSHL)cases were performed mutational analysis of the GJB2 coding region by PCR-direct sequencing. 方法采用PCR直接测序法对20个非综合征型遗传性聋家系的先证者(均为耳聋患者)进行GJB2基因的突变检测。
- One who draws blood for analysis or transfusion. 放血医师为化验或输血而抽血的人
- Mutation analysis of SHH gene in high myopia patients SHH基因在高度近视患者中的突变研究