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	2541.	Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. [electronic resource] by Sleat, D E Sohar, I Gin, R M Lobel, P Producer: 20011101 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 5 Suppl A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2542.	Up-regulation of tRNA biosynthesis affects translational readthrough in maf1-delta mutant of Saccharomyces cerevisiae. [electronic resource] by Kwapisz, Marta Smagowicz, Wiesław J Oficjalska, Danuta Hatin, Isabelle Rousset, Jean-Pierre Zoładek, Teresa Boguta, Magdalena Producer: 20030725 In: Current genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2543.	Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene. [electronic resource] by Filocamo, M Bonuccelli, G Corsolini, F Mazzotti, R Cusano, R Gatti, R Producer: 20011204 In: Human mutation vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2544.	Loss of urate oxidase activity in hominoids and its evolutionary implications. [electronic resource] by Oda, Masako Satta, Yoko Takenaka, Osamu Takahata, Naoyuki Producer: 20020918 In: Molecular biology and evolution vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2545.	Novel mutations in the IRF6 gene for Van der Woude syndrome. [electronic resource] by Wang, Xiaofang Liu, Jiali Zhang, Haibing Xiao, Mingzhen Li, Jinfeng Yang, Chunling Lin, Xianjun Wu, Zizhong Hu, Landian Kong, Xiangyin Producer: 20031031 In: Human genetics vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2546.	Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. [electronic resource] by Kerem, Eitan Hirawat, Samit Armoni, Shoshana Yaakov, Yasmin Shoseyov, David Cohen, Michael Nissim-Rafinia, Malka Blau, Hannah Rivlin, Joseph Aviram, Micha Elfring, Gary L Northcutt, Valerie J Miller, Langdon L Kerem, Batsheva Wilschanski, Michael Producer: 20080909 In: Lancet (London, England) vol. 372 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2547.	A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations. [electronic resource] by Al-Dosari, Mohammed Alkuraya, Fowzan S Producer: 20091217 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2548.	DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. [electronic resource] by Gurvich, Olga L Maiti, Baijayanta Weiss, Robert B Aggarwal, Gaurav Howard, Michael T Flanigan, Kevin M Producer: 20090706 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2549.	Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta. [electronic resource] by Hyun, H-K Lee, S-K Lee, K-E Kang, H-Y Kim, E-J Choung, P-H Kim, J-W Producer: 20091230 In: International endodontic journal vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2550.	Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. [electronic resource] by Rubio-Cabezas, Oscar Puri, Vishwajeet Murano, Incoronata Saudek, Vladimir Semple, Robert K Dash, Satya Hyden, Caroline S S Bottomley, William Vigouroux, Corinne Magré, Jocelyne Raymond-Barker, Philippa Murgatroyd, Peter R Chawla, Anil Skepper, Jeremy N Chatterjee, V Krishna Suliman, Sara Patch, Ann-Marie Agarwal, Anil K Garg, Abhimanyu Barroso, Inês Cinti, Saverio Czech, Michael P Argente, Jesús O'Rahilly, Stephen Savage, David B Producer: 20100223 In: EMBO molecular medicine vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2551.	Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. [electronic resource] by Frémeaux-Bacchi, Veronique Miller, Elizabeth C Liszewski, M Kathryn Strain, Lisa Blouin, Jacques Brown, Alison L Moghal, Nadeem Kaplan, Bernard S Weiss, Robert A Lhotta, Karl Kapur, Gaurav Mattoo, Tej Nivet, Hubert Wong, William Gie, Sophie Hurault de Ligny, Bruno Fischbach, Michel Gupta, Ritu Hauhart, Richard Meunier, Vincent Loirat, Chantal Dragon-Durey, Marie-Agnès Fridman, Wolf H Janssen, Bert J C Goodship, Timothy H J Atkinson, John P Producer: 20090112 In: Blood vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2552.	[NSI (+)]: a novel non-Mendelian nonsense suppressor determinant in Saccharomyces cerevisiae. [electronic resource] by Saifitdinova, Alsu F Nizhnikov, Anton A Lada, Artem G Rubel, Alexandr A Magomedova, Zalina M Ignatova, Valentina V Inge-Vechtomov, Sergey G Galkin, Alexey P Producer: 20110125 In: Current genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2553.	A novel nonsense mutation and polymorphisms in the mouse hairless gene. [electronic resource] by Zhang, Jin-Tao Fang, Sheng-Guo Wang, Chun-Yao Producer: 20050802 In: The Journal of investigative dermatology vol. 124 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2554.	AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart. [electronic resource] by Kalsi, K K Yuen, A H Y Johnson, P H Birks, E J Yacoub, M H Smolenski, R T Producer: 20050922 In: Nucleosides, nucleotides & nucleic acids vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2555.	A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11beta-hydroxylase form of congenital adrenal hyperplasia. [electronic resource] by Kuribayashi, Isao Massa, Guy van den Tooren-de Groot, H K Oostdijk, W Wit, J M Shizuta, Yutaka Producer: 20040701 In: Endocrine research vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2556.	UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. [electronic resource] by Nascimento, Rafaella M P Otto, Paulo A de Brouwer, Arjan P M Vianna-Morgante, Angela M Producer: 20061019 In: American journal of human genetics vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2557.	Phenotypes and genotypes in 2 DGI families with different DSPP mutations. [electronic resource] by Song, Yaling Wang, Changning Peng, Bin Ye, Xiaoqian Zhao, Gaofeng Fan, Mingwen Fu, Qiang Bian, Zhuan Producer: 20060906 In: Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2558.	Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. [electronic resource] by Mendell, Joshua T Sharifi, Neda A Meyers, Jennifer L Martinez-Murillo, Francisco Dietz, Harry C Producer: 20041102 In: Nature genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2559.	Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency. [electronic resource] by Mallet, Delphine Bretones, Patricia Michel-Calemard, Laurence Dijoud, Frederique David, Michel Morel, Yves Producer: 20041119 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)
	2560.	Both introns and long 3'-UTRs operate as cis-acting elements to trigger nonsense-mediated decay in plants. [electronic resource] by Kertész, Sándor Kerényi, Zoltán Mérai, Zsuzsanna Bartos, Imre Pálfy, Tamás Barta, Endre Silhavy, Dániel Producer: 20070103 In: Nucleic acids research vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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