نتائج البحث

Generation of Deletion and Point Mutations with One Primer in a Single Cloning Step حسب Olga V. Makarova, Emmanuel Kamberov, Ben Margolis

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Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity حسب R Devraj-Kizuk, David H.K. Chui, EV Prochownik, CJ Carter, FA Ofosu, MA Blajchman

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Isolation of point mutations that affect the folding of the H chain of human ferritin in E.coli. حسب Alessandra Luzzago, Gianni Cesareni

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Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations حسب Jeannette L. Usher, David B. Ascher, Douglas E. V. Pires, Anna M. Milan, Tom L. Blundell, L. Ranganath

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POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance حسب Fernando Bellido, Marta Pineda, Gemma Aiza, Rafael Valdés‐Mas, Matilde Navarro, Diana Puente, Tirso Pons, Sara González, Sílvia Iglesias, Esther Darder, Virgı́nia Piñol, José Luís Soto, Alfonso Valencia, Ignacio Blanco, Miguel Urioste, Joan Brunet, Conxi Lázaro, Gabriel Capellà, Xosé S. Puente, Laura Valle

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Site-directed point mutations in embryonic stem cells: a gene-targeting tag-and-exchange strategy. حسب G. Roger Askew, Thomas Doetschman, Jerry B. Lingrel

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Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa حسب Y Jin, HC Dietz, Alan T. Nurden, PF Bray

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Moderation of hemophilia A phenotype by the factor V R506Q mutation حسب WC Nichols, Kagehiro Amano, PM Cacheris, MS Figueiredo, K Michaelides, R. Schwaab, Linda Grace Hoyer, R. Ilene Kaufman, David Ginsburg

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Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type حسب Khédoudja Nafa, PJ Mason, Peter Hillmen, Lucio Luzzatto, Monica Bessler

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Mutations of the p53 gene in lymphoid leukemia حسب Kouichi Sugimoto, H. Toyoshima, Ryuichi Sakai, Kiyoshi Miyagawa, K. Hagiwara, Hisamaru Hirai, Fuyuki Ishikawa, F Takaku

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Mutations of the p53 and ras genes in childhood t(1;19)-acute lymphoblastic leukemia حسب M Kawamura, Akira Kikuchi, Shigetoshi Kobayashi, Ryoji Hanada, Keisuke Yamamoto, Kyohei Horibe, T Shikano, Koji Ueda, Kenshi Hayashi, T Sekiya

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Point mutations destabilizing a precursor protein enhance its post-translational import into mitochondria. حسب Dietmar Vestweber, Gottfried Schatz

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Molecular heterogeneity of glucose-6-phosphate dehydrogenase A- حسب Ernest Beutler, W Kühl, JL Vives-Corrons, JT Prchal

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Point mutations within a dimer interface homology domain of c-Mpl induce constitutive receptor activity and tumorigenicity. حسب Warren S. Alexander, D Metcalf, Ashley R. Dunn

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<i>RET/PTC</i> and <i>PAX8/PPAR</i>γ chromosomal rearrangements in post‐Chernobyl thyroid cancer and their association with iodine‐131 radiation dose and other characteristics حسب Rebecca J. Leeman‐Neill, Alina V. Brenner, Mark P. Little, Bogdanova Ti, Maureen Hatch, Liudmyla Y. Zurnadzy, Kiyóhiko Mabuchi, М.D. Тronko, Yuri E. Nikiforov

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Genetic and biochemical analysis of transformation-competent, replication-defective simian virus 40 large T antigen mutants حسب M. Michele Manos, Y Gluzman

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A ubiquitous factor (HF-1a) and a distinct muscle factor (HF-1b/MEF-2) form an E-box-independent pathway for cardiac muscle gene expression. حسب Sutip Navankasattusas, Hong Zhu, A. Garcia, Sylvia Μ. Evans, Kenneth R. Chien

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The first mutation identified in the thrombomodulin gene in a 45-year- old man presenting with thromboembolic disease حسب AK Ohlin, RA Marlar

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Hemoglobin variants and activity of the (K+Cl-) cotransport system in human erythrocytes حسب Oliviero Olivieri, Dominique Vitoux, F. Galactéros, D. Bachir, Y. Blouquit, Yves Beuzard, Carlo Brugnara

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The HLA-A,B "negative" mutant cell line C1R expresses a novel HLA-B35 allele, which also has a point mutation in the translation initiation codon. حسب Jacqueline Zemmour, Ann‐Margaret Little, D. J. Schendel, Peter Parham

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