全文获取类型
收费全文 | 346篇 |
免费 | 49篇 |
出版年
2021年 | 3篇 |
2020年 | 2篇 |
2019年 | 2篇 |
2018年 | 3篇 |
2016年 | 6篇 |
2015年 | 13篇 |
2014年 | 12篇 |
2013年 | 13篇 |
2012年 | 26篇 |
2011年 | 19篇 |
2010年 | 10篇 |
2009年 | 5篇 |
2008年 | 21篇 |
2007年 | 14篇 |
2006年 | 16篇 |
2005年 | 16篇 |
2004年 | 15篇 |
2003年 | 21篇 |
2002年 | 19篇 |
2001年 | 6篇 |
2000年 | 4篇 |
1999年 | 8篇 |
1998年 | 7篇 |
1997年 | 5篇 |
1996年 | 7篇 |
1995年 | 2篇 |
1994年 | 4篇 |
1993年 | 6篇 |
1992年 | 4篇 |
1991年 | 9篇 |
1990年 | 17篇 |
1989年 | 21篇 |
1988年 | 9篇 |
1987年 | 2篇 |
1986年 | 3篇 |
1984年 | 3篇 |
1981年 | 4篇 |
1980年 | 4篇 |
1979年 | 2篇 |
1978年 | 1篇 |
1977年 | 3篇 |
1976年 | 3篇 |
1975年 | 3篇 |
1974年 | 6篇 |
1973年 | 1篇 |
1972年 | 3篇 |
1971年 | 2篇 |
1970年 | 4篇 |
1969年 | 1篇 |
1968年 | 1篇 |
排序方式: 共有395条查询结果,搜索用时 15 毫秒
1.
2.
N. Ghanem J. M. Lobaccaro C. Buresi M. Abbal G. Halaby C. Sultan G. Lefranc 《Human genetics》1990,86(2):117-125
Summary Defects in the enzyme, steroid 21-hydroxylase, result in congenital adrenal hyperplasia (CAH), a common autosomal recessive disorder of cortisol biosynthesis. The gene encoding this protein (CYP21B) and a closely linked pseudogene (CYP21A) have been mapped in the HLA complex on chromosome 6p, adjacent to the complement genes C4B and C4A, about 80 kb from the factor B gene. Molecular analyses of patients with CAH have shown that the cause of the defect may be either a deletion, a point mutation or a conversion of the active gene. Linkage of the disease to HLA has previously been studied by several groups. We have analyzed DNAs from patients with classical and non-classical CAH and from their family members, by probing with CYP21, C4 and BF cDNAs. In 70% of the CAH haplotypes studied, the defective CYP21B gene was indistinguishable from its structurally intact corresponding gene in Southern blot analysis, and presumably bore point mutations. In the remaining chromosomes, evidence for gene conversions, deletions and various deleterious mutations of the CYP21B gene is given. Moreover, our linkage studies show that a polymorphic TaqI cleavage site in the factor B gene, recently described by us, may be a new and useful genetic marker, because we found this TaqI restriction site only in unaffected haplotypes carrying functional CYP21B genes and, therefore, in negative association with the defective CYP21B gene. 相似文献
3.
Genoveva Keyeux Simone Gilgenkrantz Gérard Lefranc Marie-Paule Lefranc 《Human genetics》1990,85(6):617-622
Summary Two cases of chromosome 14 rearrangements with partial duplication which occurred de novo were analyzed by Southern blot analysis using IGH, D14S1 and PI probes. In the first case, with a 46,XX,14p+ karyotype, our study confirms that the additional material on chromosome 14p+ results from a duplication of the 14q region containing the IGH, D14S1 and PI loci. In the second case, our study reveals only one 14q32 locus per chromosome 14 indicating that the extra material does not contain the 14q32 region. Our results demonstrate that molecular probes of the 14q32 region are valuable tools for the characterisation of chromosome 14 abnormalities appearing de novo. 相似文献
4.
M P Lefranc 《Biochimie》1988,70(7):901-908
The human T-cell Rearranging Gamma genes or T-cell Receptor Gamma (TRG) chain genes, like those encoding the T-cell Receptor (TcR) alpha and beta polypeptides, undergo rearrangements specifically in T-cells. The human TRG locus which has been mapped to chromosome 7 (7p15) is composed of 2 constant region genes (TRGC), 5 joining segments (TRGJ) and at least 14 variable gamma genes (TRGV). 8 variable genes are functional and belong to 4 different subgroups. Based on restriction fragments, the TRG rearrangements can be assigned to given V and J segments, in normal T-cells, T leukemias and lymphomas. The product of the rearranged TRG gene is the gamma chain which is expressed at the surface of a subset of CD3+4-8- T lymphocytes lacking the conventional receptor alpha beta. Structural differences exist between the different 'gamma T-cell receptors', the gamma and delta polypeptides being disulfide or non-disulfide linked. Although the TRG+ cells display a cytolytic activity, their precise function remains to be elucidated. 相似文献
5.
6.
The chromosomal location of T-cell receptor genes and a T cell rearranging gene: possible correlation with specific translocations in human T cell leukaemia. 总被引:16,自引:6,他引:10 下载免费PDF全文
T H Rabbitts M P Lefranc M A Stinson J E Sims J Schroder M Steinmetz N L Spurr E Solomon P N Goodfellow 《The EMBO journal》1985,4(6):1461-1465
We have examined the chromosomal location of human T cell-specific genes which are involved in antigen recognition and of a gene which specifically rearranges in T cells. The genes encoding both the variable and constant region segments of the T cell receptor alpha chain are found on chromosome 14 while the delta chain gene of the T cell receptor-associated T3 complex is localised to chromosome 11. Further, the two tandemly arranged T cell-specific rearranging genes, designated gamma, were mapped to chromosome 7, but apparently not closely linked to the previously mapped T cell receptor beta-chain gene. The locations of the three different genes, which undergo rearrangement in T cells, may correlate with the chromosomal breakpoints known to be involved in translocations within abnormal human T cells. 相似文献
7.
Sequence of a human immunoglobulin gamma 3 heavy chain constant region gene: comparison with the other human C gamma genes. 总被引:13,自引:2,他引:11 下载免费PDF全文
We report the first and complete nucleotide sequence of a human gamma 3 heavy chain constant region gene (C gamma 3). This gene displays the same organization than the others C gamma genes and exhibits normal RNA splice and polyadenylation sites. A comparison of its primary sequence with those of C gamma 1, C gamma 2 and C gamma 4 genes confirms the high degree of homology (95%) of the human family in both coding and non-coding regions, and the divergence of the hinge region. The C gamma 3 gene we sequenced codes for a Gm(b) gamma 3 chain (EZZ). Comparison with other known protein sequences reveals that only two specific aminoacids are involved in the Gm(b) and Gm(g) allotypes, which suggests an important part of the spatial configuration in the allotypic specificities. 相似文献
8.
9.
The human T-cell receptor gamma variable pseudogeneV10 is a distinctive marker of human speciation 总被引:1,自引:1,他引:0
Xiao-Min Zhang Guy Cathala Zohra Soua Marie-Paule Lefranc Sylvie Huck 《Immunogenetics》1996,43(4):196-203
The nucleotide sequence data reported in this paper have been submitted to the EMBL/GenBank/DDBJ nucleotide sequence databases and have been assigned the accession numbers X86 558 and X86 709–X86 723 相似文献
10.