Objective To investigate the relationship between the point mutation of ABCB4 gene exon 23 and the intrahepatic cholestasis of pregnancy (ICP).
目的：探讨ABCB4基因外显子23点突变与妊娠期肝内胆汁淤积症（ ICP）发病的关系。
Applying RNase Protection assay, the point mutation in the RB gene was observed.
运用核酸酶保护试验观察rb基因的点突变现象。
In BCR-ABL fusion gene negative myeloproliferative diseases, the discovery of JAK2V617F point mutation is an important landmark.
在BCR- ABL阴性的骨髓增殖性疾病的发病机制中，JAK2V 617 F点突变的发现是一个重大的突破。
Objective To screen the point mutation at the codon 54(GGC54GAC) in the first exon of the mannan binding lectin (MBL) gene in Hans from Guangdong.
目的对广东地区汉族人群的甘露聚糖结合凝集素结构基因第一外显子第54位密码点突变（GGC54GAC）进行初步筛查。
AIM: To investigate the relationship between the point mutation of ABCB4 gene and intrahepatic cholestasis of pregnancy (ICP).
目的：探讨ABCB 4基因点突变与妊娠期肝内胆汁淤积症(ICP)发病的关系。
Twenty cases(20/31) were selected randomly for DNA sequencing. No point mutation of ABCB4 gene exon 23 were detected.
随机挑选20例标本测定外显子23的DNA序列，未发现点突变。
Conclusion the site specific point mutation system can modify human gene in vitro more accurately. It is useful in the setting up of animal models.
结论体外定点突变系统可以对基因进行精细的修饰，为建立更精确地模拟人类疾病的动物模型打下基础。
No p16 gene point mutation was detected.
所有标本未检出点突变。
No p16 gene point mutation was detected.
所有标本未检出点突变。
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