共查询到20条相似文献,搜索用时 31 毫秒
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Phenylalanine Ammonia-Lyase Genes from Pisum sativum: Structure, Organ-Specific Expression and Regulation by Fungal Elicitor and Suppressor 总被引:3,自引:0,他引:3
Yamada Tetsuji; Tanaka Yoshikazu; Sriprasertsak Permpong; Kato Hisaharu; Hashimoto Tadaaki; Kawamata Shinji; Ichinose Yuki; Kato Hidenori; Shiraishi Tomonori; Oku Hachiro 《Plant & cell physiology》1992,33(6):715-725
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Phosphate Transporter Gene Family of Arabidopsis thaliana 总被引:6,自引:0,他引:6
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Nicholas C. Nicolaides Fabio Palombo Kenneth W. Kinzler Bert Vogelstein Josef Jiricny 《Genomics》1996,31(3):395
Defects in mismatch repair genes cause the genetic instability characteristic of hereditary nonpolyposis colorectal cancer and a subset of sporadic colon tumors. The newest member of the mismatch repair gene family,GTBP, has recently been identified as a partial cDNA. Here, we describe the isolation of its 5′ terminus, allowing definition of the entire coding region. Several polymorphisms within the 5′ end were identified and are presented. 相似文献
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Seven New Mutations in hMSH2, an HNPCC Gene, Identified by Denaturing Gradient-Gel Electrophoresis 总被引:21,自引:3,他引:18
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![点击此处可从《American journal of human genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Juul Wijnen Hans Vasen P. Meera Khan Fred H. Menko Heleen van der Klift Claus van Leeuwen Marianne van den Broek Inge van Leeuwen-Cornelisse Fokko Nagengast Anne Meijers-Heijboer Dick Lindhout Gerrit Griffioen Annemieke Cats Jan Kleibeuker Liliana Varesco Lucio Bertario Marie Luise Bisgaard Jan Mohr Riccardo Fodde 《American journal of human genetics》1995,56(5):1060-1066
Hereditary nonpolyposis colorectal cancer (HNPCC) is a relatively common autosomal dominant cancer-susceptibility condition. The recent isolation of the DNA mismatch repair genes (hMSH2, hMLH1, hPMS1, and hPMS2) responsible for HNPCC has allowed the search for germ-line mutations in affected individuals. In this study we used denaturing gradient-gel electrophoresis to screen for mutations in the hMSH2 gene. Analysis of all the 16 exons of hMSH2, in 34 unrelated HNPCC kindreds, has revealed seven novel pathogenic germ-line mutations resulting in stop codons either directly or through frameshifts. Additionally, nucleotide substitutions giving rise to one missense, two silent, and one useful polymorphism have been identified. The proportion of families in which hMSH2 mutations were found is 21%. Although the spectrum of mutations spread at the hMSH2 gene among HNPCC patients appears extremely heterogeneous, we were not able to establish any correlation between the site of the individual mutations and the corresponding tumor spectrum. Our results indicate that, given the genomic size and organization of the hMSH2 gene and the heterogeneity of its mutation spectrum, a rapid and efficient mutation detection procedure is necessary for routine molecular diagnosis and presymptomatic detection of the disease in a clinical setup. 相似文献
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