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  • Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C
    [作者:Xiong, H; Higaki, K; Wei, CJ; Bao, XH; Zhang, YH; Fu, N; Qin, J; Adachi, K; Kumura, Y; Ninomiya, H; Nanba, E; Wu, XR,期刊:Gene, 页码:332-335 , 文章类型: Article,,卷期:2012年498-2]
  • Niemann-Pick disease type C (NP-C), caused by mutations of either NPC1 or NPC2 gene, is an inherited lysosomal lipid storage disorder that is difficult to be diagnosed and treated. NP-C is rarely reported in China and so...
  • Regulation of the human catalytic subunit of telomerase (hTERT)
    [作者:Daniel, M; Peek, GW; Tollefsbol, TO,期刊:Gene, 页码:135-146 , 文章类型: Review,,卷期:2012年498-2]
  • Over the past decade, there has been much interest in the regulation of telomerase, the enzyme responsible for maintaining the integrity of chromosomal ends, and its crucial role in cellular immortalization, tumorigenesi...
  • Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia
    [作者:Levanat, S; Musani, V; Cvok, ML; Susac, I; Sabol, M; Ozretic, P; Car, D; Eljuga, D; Eljuga, L; Eljuga, D,期刊:Gene, 页码:169-176 , 文章类型: Article,,卷期:2012年498-2]
  • BRCA1 and BRCA2 genes from 167 candidates (145 families) were scanned for muta.:ions. We identified 14 pathogenic point mutations in 17 candidates, 9 in BRCA1 and 5 in BRCA2. Of those, 11 have been previously described a...