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Analysis for microsatellite instability was performed on 5 paired samples of lymphocyte DNA and paraffin embedded or fresh-frozen tumor tissue.

结果:在该家系的2例结肠癌患者中均发现hMSH2基因第13外显子2108位出现C—A的错义突变,导致703位Ser变异为Tyr,即C.2108C〉A

The gene responsible for congenital sutural cataract in a Chinese pedigree is located at chromosome 3q21.1-q26.2 within a 38.6 cM region.

先天性缝合状白内障家系的致病基因位于3号染色体3q21.1-q26.2约38.6 cM区域内。

Objective Analysis of pathogenic gene linkage and hemopoietic characteristics in a kindred with sideroblastic anemia.

目的 分析铁粒幼细胞贫血家系的致病基因和研究患者骨髓造血特征。

Objective: To investigate the clinical manifestations and to make genetic analysis in a pedigree with myotonic dystrophy disease.

目的:探讨浙江台州地区一个强直性肌营养不良(myotonic dystrophy, DM)汉族家系的临床表现和分子遗传学基础。

ADF/Cofilins Proteinic Family Constellation in Cytoskeletal Protein: How Does Depolymerization Occur through Combination of ADF/Cofilins with Actin?

CEPS 思博网--文章书目;-1页数:5 需求点数:20 电子全文:请登入。篇名细胞骨架蛋白中ADF/cofilin蛋白家系的作用:如何与肌动蛋白结合及发挥解聚作用?

We investigated the clinical features and gene mutation in a pedigree of spinocerebellar ataxia.

对一脊髓小脑性共济失调(Spinocerebenllar ataxia, SCA)家系的患者进行临床特征及相关基因突变研究。

OBJECTIVE: To locate the keloid predisposing gene locus in Chinese pedigree of Han nationality.

目的:定位中国汉族瘢痕疙瘩家系的易感基因位点。

OBJECTIVE: To study the clinical genetics characteristics for Han familial keloids.

目的:分析汉族瘢痕疙瘩家系的临床遗传学特征。

Methods 12 diagnosed patients of 2 HNPCC pedigrees were collected and followed up.

目的 探讨遗传性非息肉病性大肠癌家系的临床特征。

Based on our research data and previous literature, pathogenesis and treatment of HHD were also discussed.

这些患者及家系的临床特征与以前文献报道相一致。

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