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. , Rassbach , B. , Lemus , A. , DeArmond , S. J. and Mastrianni , J. A. ( 2009 ): A new transgenic mouse model of Gerstmann-Straussler-Scheinker syndrome caused by the A117V mutation of PRNP . J. Neurosci. 29 , 10072 – 10080

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Chu, L. L., Rutteman, G. R., Kong, J. M. C., Ghahremani, M., Schmeing, M., Misdorp, W., van Garderen, E. and Pelletier, J. (1998): Genomic organization of the canine p53 gene and its mutational status in canine

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) 133 1 132 Jin, D. J. and Gross, C. A. 1988: Mapping and sequencing of mutations in the Escherichia coli rpoB gene that lead to rifampicin resistance

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Mayr, B., Zwetkoff, S., Schaffner, G. and Reifinger, M. 2002b:: Tumour suppressor gene p53 mutation in a case of haemangiosarcoma of a dog. Acta Vet. Hung. 50 , 157-160. Tumour

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C. Beroud, T. Soussi (1998): p53 gene mutation: software and database. Nucleic Acids Res. 26, 200204. p53 gene mutation: software and database. Nucleic

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Orvosi Hetilap
Authors: Nikolett Lendvai, Ildikó Szabó, Henriett Butz, Gabriella Bekő, János Horányi, Mária Tarjányi, Sándor Alföldi, István Szabó, Károly Rácz, and Attila Patócs

Neumann, H. P., Bausch, B., McWhinney, S. R. és mtsa: Germ-line mutations in nonsyndromic pheochromocytoma. N. Engl. J. Med., 2002, 346 , 1459–1466. McWhinney S. R. Germ

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59 68 Tiacci, E., Trifonov, V., Schiavoni, G., et al.: BRAF mutations in hairy cell leukemia. N. Engl. J. Med., 2011, 364 , 2305

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this study. It was cloned into TOPO-100 expression vector and alanine mutations were generated as follows: NDM-2 (P28A), NDM-3 (D95A), NDM-4 (M154A), NDM-5 (V88A), NDM-7 (D130A), and NDM-9 (E152A). Changes in the activities of the alanine mutation

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Science 279 1158 1159 Burger, R. and Hofbauer, J. (1994): Mutation load and mutation-selection-balance in

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Acta Microbiologica et Immunologica Hungarica
Authors: Elham Rayzan, Gholamreza Pouladfar, Nima Parvaneh, Mohammad Shahrooei, Zahra Aryan, and Nima Rezaei

). Defects in each subunit of PHOX can lead to CGD [ 2 , 3 ]. Figure 1. The assembled NADPH oxidase complex activity. Defective activity of each component will result in CGD. CYBA - 16q24 - mutation is responsible

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