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A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from Chi
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脑腱黄瘤病（CTX）是由CYP27A1基因突变导致的罕见常染色体隐性遗传病。文中新报道3例CTX患者的临床表型和CYP27A1基因突变类型，进行家......
目的 鉴定中国人群人类白细胞抗原(human leukocyte antigen,HLA)A*02:251新等位基因,分析新等位基因遗传特征.方法 采用聚合酶链......
目的筛查遗传性痉挛性截瘫Spastin基因突变,探索贵州地区少数民族(彝族、布衣族、苗族)Spastin基因诊断方法。方法应用PCR产物直接......
该文从挂篮荷载计算、施工流程、支座及临时固结施工、挂篮安装及试验、合拢段施工、模板制作安装、钢筋安装、混凝土的浇筑及养生......
A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from Chi
...
Genomic structure of metabotropic glutamate receptor 7 and comparison of genomic structures of extra
为探究吕家坨井田地质构造格局,根据钻孔勘探资料,采用分形理论和趋势面分析方法,研究了井田7......
INTRODUCTIONThe liver is one of the organs, which have potential regenerative capability in mammalian animal[1].The stud......
To examine the deletion and point mutation of WWOX (WW domain containing oxidoreductase) exons 6-8 in human non-small ce......
This study has been carried out to give some scientific reasons for genome annotation, shorten the annotating time, and ......
Genomic structure of metabotropic glutamate receptor 7 and comparison of genomic structures of extra
Metabotropic glutamate receptor 7, coupled with a chemical neurotransmitter L-glutamate, plays an important role in the ......
To isolate the novel genes related to human hepatocellular carcinoma (HCC), we sequenced P1-derived artificial chromosom......
目的 鉴定中国人群人类白细胞抗原(human leukocyte antigen,HLA)DRB1基因,分析新等位基因第1和2内含子序列信息.方法 采用聚合酶......
