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	1521.	Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension. [electronic resource] by Abbasi, Yeganeh Jabbari, Javad Jabbari, Reza Glinge, Charlotte Izadyar, Seyed Bahador Spiekerkoetter, Edda Zamanian, Roham T Carlsen, Jørn Tfelt-Hansen, Jacob Producer: 20181211 In: Molecular genetics & genomic medicine vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1522.	Founder effect of the C9 R95X mutation in Orientals. [electronic resource] by Khajoee, Vahid Ihara, Kenji Kira, Ryutaro Takemoto, Megumi Torisu, Hiroyuki Sakai, Yasunari Guanjun, Jia Hee, Park Myoung Tokunaga, Katsushi Hara, Toshiro Producer: 20030417 In: Human genetics vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1523.	A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay. [electronic resource] by Amrani, Nadia Ganesan, Robin Kervestin, Stephanie Mangus, David A Ghosh, Shubhendu Jacobson, Allan Producer: 20041217 In: Nature vol. 432 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1524.	Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms. [electronic resource] by Evans, D G R Maher, E R Baser, M E Producer: 20060605 In: Journal of medical genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1525.	A 3' UTR sequence stabilizes termination codons in the unspliced RNA of Rous sarcoma virus. [electronic resource] by Weil, Jason E Beemon, Karen L Producer: 20060203 In: RNA (New York, N.Y.) vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1526.	Detection of a novel nonsense mutation in the interleukin 2 receptor gamma gene causing X-linked severe combined immunodeficiency. [electronic resource] by Cohen, Lindsay Hirschfeld, Aaron F Junker, Anne K Davis, Jeff Turvey, Stuart E Producer: 20060630 In: Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1527.	In vivo incorporation of multiple unnatural amino acids through nonsense and frameshift suppression. [electronic resource] by Rodriguez, Erik A Lester, Henry A Dougherty, Dennis A Producer: 20060719 In: Proceedings of the National Academy of Sciences of the United States of America vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1528.	Darier's disease associated with cutis verticis gyrata, hyperprolactinaemia and depressive disorder. [electronic resource] by Rácz, Emoke Kornseé, Zoltán Csikós, Márta Dobos, Matild Salacz, Pál Kárpáti, Sarolta Producer: 20060606 In: Acta dermato-venereologica vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1529.	Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. [electronic resource] by Riepe, Felix G Krone, Nils Morlot, Michel Peter, Michael Sippell, Wolfgang G Partsch, Carl-Joachim Producer: 20040714 In: The Journal of clinical endocrinology and metabolism vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1530.	Disruption of the beta3 663-687 disulfide bridge confers constitutive activity to beta3 integrins. [electronic resource] by Butta, Nora Arias-Salgado, Elena G González-Manchón, Consuelo Ferrer, Milagros Larrucea, Susana Ayuso, Matilde S Parrilla, Roberto Producer: 20031029 In: Blood vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1531.	The Malmö International Brother Study (MIBS). Genetic defects and inhibitor development in siblings with severe hemophilia A. [electronic resource] by Astermark, Jan Oldenburg, Johannes Escobar, Miguel White, Gilbert C Berntorp, Erik Producer: 20060818 In: Haematologica vol. 90 Availability: No items available. Save to lists Add to cart (remove)
	1532.	Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. [electronic resource] by Delev, D Pavlova, A Heinz, S Seifried, E Oldenburg, J Producer: 20100511 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1533.	Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. [electronic resource] by Guillem, Flavia Lawson, Sarah Kannengiesser, Caroline Westerman, Mark Beaumont, Carole Grandchamp, Bernard Producer: 20080930 In: Blood vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1534.	Roles of genes 38, 39, and 40 in shutoff of host biosyntheses during infection of Bacillus subtilis by bacteriophage SPO1. [electronic resource] by Stewart, Charles R Yip, Tameson K S Myles, Bati Laughlin, Laura Producer: 20090917 In: Virology vol. 392 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1535.	Prognostic DNA testing and counselling for dominant optic atrophy due to a novel OPA1 mutation. [electronic resource] by Yoshida, Shigeo Yamaji, Yoko Yoshida, Ayako Kuwahara, Rumi Fujisawa, Kimihiko Ishibashi, Tatsuro Producer: 20061121 In: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1536.	Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon. [electronic resource] by Rederstorff, M Allamand, V Guicheney, P Gartioux, C Richard, P Chaigne, D Krol, A Lescure, A Producer: 20080215 In: Nucleic acids research vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1537.	Recombinant expression of selectively sulfated proteins in Escherichia coli. [electronic resource] by Liu, Chang C Schultz, Peter G Producer: 20061228 In: Nature biotechnology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1538.	Genetic screening for pheochromocytoma: should SDHC gene analysis be included? [electronic resource] by Mannelli, M Ercolino, T Giachè, V Simi, L Cirami, C Parenti, G Producer: 20071009 In: Journal of medical genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1539.	Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: the splice site mutation c.6216+5G > T in the COL7A1 gene results in aberrant and normal splicings. [electronic resource] by Hamada, Takahiro Fukuda, Shunpei Ishii, Norito Sakaguchi, Sachiko Ishikawa, Takako Abe, Toshifumi Yasumoto, Shinichiro Hashimoto, Takashi Nakano, Hajime Sawamura, Daisuke Producer: 20080619 In: Journal of dermatological science vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1540.	Upf1 phosphorylation triggers translational repression during nonsense-mediated mRNA decay. [electronic resource] by Isken, Olaf Kim, Yoon Ki Hosoda, Nao Mayeur, Greg L Hershey, John W B Maquat, Lynne E Producer: 20080428 In: Cell vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 5852 results.