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	4981.	Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. [electronic resource] by Henthorn, P S Liu, J Gidalevich, T Fang, J Casal, M L Patterson, D F Giger, U Producer: 20010104 In: Human genetics vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4982.	Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. [electronic resource] by Gache, Y Allegra, M Bodemer, C Pisani-Spadafora, A de Prost, Y Ortonne, J P Meneguzzi, G Producer: 20020117 In: Human molecular genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4983.	Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. [electronic resource] by Item, C B Stöckler-Ipsiroglu, S Stromberger, C Mühl, A Alessandrì, M G Bianchi, M C Tosetti, M Fornai, F Cioni, G Producer: 20011207 In: American journal of human genetics vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4984.	A single-nucleotide deletion leads to rapid degradation of TAP-1 mRNA in a melanoma cell line. [electronic resource] by Yang, Tianyu McNally, Beth A Ferrone, Soldano Liu, Yang Zheng, Pan Producer: 20030716 In: The Journal of biological chemistry vol. 278 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4985.	A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo. [electronic resource] by Margaglione, M Vecchione, G Santacroce, R D'Angelo, F Casetta, B Papa, M L Grandone, E Di Minno, G Producer: 20020712 In: Thrombosis and haemostasis vol. 86 Availability: No items available. Save to lists Add to cart (remove)
	4986.	Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex. [electronic resource] by Kim, V N Kataoka, N Dreyfuss, G Producer: 20011004 In: Science (New York, N.Y.) vol. 293 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4987.	Identification and chromosomal assignment of two heterozygous mutations in the Trp53 gene in L5178Y/Tk(+/-)-3.7.2C mouse lymphoma cells. [electronic resource] by Clark, L S Hart, D W Vojta, P J Harrington-Brock, K Barrett, J C Moore, M M Tindall, K R Producer: 19990208 In: Mutagenesis vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4988.	Wilms' tumor suppressor (WT1) is a mediator of neuronal degeneration associated with the pathogenesis of Alzheimer's disease. [electronic resource] by Lovell, Mark A Xie, Chengsong Xiong, Shuling Markesbery, William R Producer: 20031128 In: Brain research vol. 983 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4989.	Widespread impact of nonsense-mediated mRNA decay on the yeast intronome. [electronic resource] by Sayani, Shakir Janis, Michael Lee, Chrissie Young Toesca, Isabelle Chanfreau, Guillaume F Producer: 20080905 In: Molecular cell vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4990.	Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation. [electronic resource] by Wang, Dan Shukla, Charu Liu, Xiaoli Schoeb, Trenton R Clarke, Lorne A Bedwell, David M Keeling, Kim M Producer: 20100426 In: Molecular genetics and metabolism vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4991.	Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology. [electronic resource] by Grünewald, A Gegg, M E Taanman, J-W King, R H Kock, N Klein, C Schapira, A H V Producer: 20090925 In: Experimental neurology vol. 219 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4992.	Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. [electronic resource] by Persichetti, Emanuele Chuzhanova, Nadia A Dardis, Andrea Tappino, Barbara Pohl, Sandra Thomas, Nick S T Rosano, Camillo Balducci, Chiara Paciotti, Silvia Dominissini, Silvia Montalvo, Anna Lisa Sibilio, Michela Parini, Rossella Rigoldi, Miriam Di Rocco, Maja Parenti, Giancarlo Orlacchio, Aldo Bembi, Bruno Cooper, David N Filocamo, Mirella Beccari, Tommaso Producer: 20090813 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4993.	Nonsense-mediated mRNA decay factors act in concert to regulate common mRNA targets. [electronic resource] by Rehwinkel, Jan Letunic, Ivica Raes, Jeroen Bork, Peer Izaurralde, Elisa Producer: 20051031 In: RNA (New York, N.Y.) vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4994.	Human cytomegalovirus pUL83 stimulates activity of the viral immediate-early promoter through its interaction with the cellular IFI16 protein. [electronic resource] by Cristea, Ileana M Moorman, Nathaniel J Terhune, Scott S Cuevas, Christian D O'Keefe, Erin S Rout, Michael P Chait, Brian T Shenk, Thomas Producer: 20100720 In: Journal of virology vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4995.	Homozygosity for premature stop codon of the MHC class I chain-related gene A (MIC-A) is associated with early activation of islet autoimmunity of DR3/4-DQ2/8 high risk DAISY relatives. [electronic resource] by Ide, Akane Babu, Sunanda R Robles, David T Wang, Tianbao Erlich, Henry A Bugawan, Teodorica L Rewers, Marian Fain, Pamela R Eisenbarth, George S Producer: 20070822 In: Journal of clinical immunology vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4996.	A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. [electronic resource] by Vorgerd, Matthias van der Ven, Peter F M Bruchertseifer, Vera Löwe, Thomas Kley, Rudolf A Schröder, Rolf Lochmüller, Hanns Himmel, Mirko Koehler, Katrin Fürst, Dieter O Huebner, Angela Producer: 20050923 In: American journal of human genetics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4997.	Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. [electronic resource] by Acquaviva, Cécile Benoist, Jean-François Pereira, Sabrina Callebaut, Isabelle Koskas, Thu Porquet, Dominique Elion, Jacques Producer: 20060314 In: Human mutation vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4998.	Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients. [electronic resource] by Goto, Maki Sawamura, Daisuke Nishie, Wataru Sakai, Kaori McMillan, James R Akiyama, Masashi Shimizu, Hiroshi Producer: 20061214 In: The Journal of investigative dermatology vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4999.	Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model. [electronic resource] by Du, Ming Keeling, Kim M Fan, Liming Liu, Xiaoli Kovaçs, Timea Sorscher, Eric Bedwell, David M Producer: 20070419 In: Journal of molecular medicine (Berlin, Germany) vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5000.	Differential roles for the C-terminal hexapeptide domains of NS2 splice variants during MVM infection of murine cells. [electronic resource] by Ruiz, Zandra D'Abramo, Anthony Tattersall, Peter Producer: 20060714 In: Virology vol. 349 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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