Rezultati

Generation of Deletion and Point Mutations with One Primer in a Single Cloning Step od 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 od 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. od 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 od 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 od 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. od 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 od Y Jin, HC Dietz, Alan T. Nurden, PF Bray

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Moderation of hemophilia A phenotype by the factor V R506Q mutation od 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 od Khédoudja Nafa, PJ Mason, Peter Hillmen, Lucio Luzzatto, Monica Bessler

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Mutations of the p53 gene in lymphoid leukemia od 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 od 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. od Dietmar Vestweber, Gottfried Schatz

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Molecular heterogeneity of glucose-6-phosphate dehydrogenase A- od 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. od 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 od 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 od 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. od 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 od AK Ohlin, RA Marlar

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Hemoglobin variants and activity of the (K+Cl-) cotransport system in human erythrocytes od 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. od Jacqueline Zemmour, Ann‐Margaret Little, D. J. Schendel, Peter Parham

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