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Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme,in spinocerebellar ataxia with axonal neuropathy 总被引:14,自引:0,他引:14
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The characteristics of macromolecular chains of cellulose in dilute solutions are discussed. Viscometry was used for the measurement of the intrinsic viscosity [η] of four cellulose samples, which were respectively dissolved in the solvent Tri-ethylenediamine cadmium hydroxide Cadoxen (Cadoxen), Cupriethylenediamine hydroxide(Cuen), iron sodium tartrate complex(EWNN) and N,N-dimethylacetamide(DMAc)with lithium chloride(LiCI, 9% w/w). The intrinsic viscosity of the four solutions decreased in the following manner:[η]DMAc/LiCl>[η]EWNN>[η]Cuen>[η]Cadoxen. The stability of cellulose (Sample α-cellulose) dissolved in solvents Cuen and EWNN was tested by plotting the intrinsic viscosity vs. time. The values of Huggins constant K_H for the cellulose samples dissolved in solvents Cadoxen,Cuen,EWNN and DMAc/LiCl (9% w/w ) were calculated. 相似文献
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Cornelius F Boerkoel Hiroshi Takashima Joy John Jiong Yan Pawel Stankiewicz Lisa Rosenbarker Jean-Luc André Radovan Bogdanovic Antoine Burguet Sandra Cockfield Isabel Cordeiro Stefan Fründ Friederike Illies Mark Joseph Ilkka Kaitila Giuliana Lama Chantal Loirat D Ross McLeod David V Milford Elizabeth M Petty Francisco Rodrigo Jorge M Saraiva Beate Schmidt Graham C Smith Jürgen Spranger Anja Stein Hannelore Thiele Jane Tizard Rosanna Weksberg James R Lupski David W Stockton 《Nature genetics》2002,30(2):215-220
Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), are responsible for SIOD. Through analysis of data from persons with SIOD in 26 unrelated families, we observed that affected individuals from 13 of 23 families with severe disease had two alleles with nonsense, frameshift or splicing mutations, whereas affected individuals from 3 of 3 families with milder disease had a missense mutation on each allele. These observations indicate that some missense mutations allow retention of partial SMARCAL1 function and thus cause milder disease. 相似文献
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