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	2841.	Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients. [electronic resource] by Kuschal, Christiane Khan, Sikandar G Enk, Benedikt DiGiovanna, John J Kraemer, Kenneth H Producer: 20160422 In: Experimental dermatology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2842.	Frequent truncating mutations of STAG2 in bladder cancer. [electronic resource] by Solomon, David A Kim, Jung-Sik Bondaruk, Jolanta Shariat, Shahrokh F Wang, Zeng-Feng Elkahloun, Abdel G Ozawa, Tomoko Gerard, Julia Zhuang, Dazhong Zhang, Shizhen Navai, Neema Siefker-Radtke, Arlene Phillips, Joanna J Robinson, Brian D Rubin, Mark A Volkmer, Björn Hautmann, Richard Küfer, Rainer Hogendoorn, Pancras C W Netto, George Theodorescu, Dan James, C David Czerniak, Bogdan Miettinen, Markku Waldman, Todd Producer: 20140212 In: Nature genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2843.	OTOF mutation screening in Japanese severe to profound recessive hearing loss patients. [electronic resource] by Iwasa, Yoh-ichiro Nishio, Shin-ya Yoshimura, Hidekane Kanda, Yukihiko Kumakawa, Kozo Abe, Satoko Naito, Yasushi Nagai, Kyoko Usami, Shin-ichi Producer: 20140106 In: BMC medical genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2844.	Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets. [electronic resource] by Malloy, Peter J Tasic, Velibor Taha, Doris Tütüncüler, Filiz Ying, Goh Siok Yin, Loke Kah Wang, Jining Feldman, David Producer: 20140915 In: Molecular genetics and metabolism vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2845.	Comparison of read-through effects of aminoglycosides and PTC124 on rescuing nonsense mutations of HERG gene associated with long QT syndrome. [electronic resource] by Yu, Haiyun Liu, Xiaoyan Huang, Jian Zhang, Yinhui Hu, Roumu Pu, Jielin Producer: 20140909 In: International journal of molecular medicine vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2846.	Identification of hundreds of novel UPF1 target transcripts by direct determination of whole transcriptome stability. [electronic resource] by Tani, Hidenori Imamachi, Naoto Salam, Kazi Abdus Mizutani, Rena Ijiri, Kenichi Irie, Takuma Yada, Tetsushi Suzuki, Yutaka Akimitsu, Nobuyoshi Producer: 20130725 In: RNA biology vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2847.	Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation. [electronic resource] by Quaio, C R Koda, Y K Bertola, D R Sukalo, M Zenker, M Kim, C A Producer: 20150306 In: Genetics and molecular research : GMR vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2848.	A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies. [electronic resource] by Geraets, Ryan D Langin, Logan M Cain, Jacob T Parker, Camille M Beraldi, Rosanna Kovacs, Attila D Weimer, Jill M Pearce, David A Producer: 20170905 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2849.	mRNAs involved in copper homeostasis are regulated by the nonsense-mediated mRNA decay pathway depending on environmental conditions. [electronic resource] by Peccarelli, Megan Scott, Taylor D Steele, Megan Kebaara, Bessie W Producer: 20160831 In: Fungal genetics and biology : FG & B vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2850.	The Effect of Nonsense Mediated Decay on Transcriptional Activity Within the Novel β-Thalassemia Mutation HBB: c.129delT. [electronic resource] by Forster, Luke Ardakani, Rasha Mesbah Qadah, Talal Finlayson, Jill Ghassemifar, Reza Producer: 20160602 In: Hemoglobin vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2851.	Spinal Stenosis with Paraparesis in a Korean Boy with Albright's Hereditary Osteodystrophy: Identification of a Novel Nonsense Mutation in the GNAS. [electronic resource] by Lee, Sang Heon Mun, Seung Hyeon Cho, Sung Yoon Kim, Yeo Ju Jin, Dong-Kyu Ki, Chang-Seok Lee, Ji-Eun Producer: 20160328 In: Annals of clinical and laboratory science vol. 45 Availability: No items available. Save to lists Add to cart (remove)
	2852.	Prevalence of Pathogenic Variants of FAN1 in More Than 5000 Patients Assessed for Genetic Predisposition to Colorectal, Breast, Ovarian, or Other Cancers. [electronic resource] by Fievet, Alice Mouret-Fourme, Emmanuelle Colas, Chrystelle de Pauw, Antoine Stoppa-Lyonnet, Dominique Buecher, Bruno Producer: 20190513 In: Gastroenterology vol. 156 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2853.	Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family. [electronic resource] by Wang, Yiting Chen, Feng Wang, Jiali Zhao, Yingwang Liu, Fang Producer: 20200605 In: BMC nephrology vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2854.	A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome. [electronic resource] by Wang, Dan Hu, Dongjie Guo, Zhichao Hu, Rong Wang, Qunxian Liu, Yannan Liu, Mingjing Meng, Zijun Yang, Huan Zhang, Yun Cai, Fang Zhou, Weihui Song, Weihong Producer: 20210326 In: Molecular genetics & genomic medicine vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2855.	Carney complex 1 with PRKAR1A mutations manifesting as multiple repeated skin myxomas: A case report. [electronic resource] by Sakugawa, Hiroyuki Hayashi, Kentaro Uema, Michihito Miyagi, Takuya Utsumi, Daisuke Yamaguchi, Sayaka Takahashi, Kenzo Producer: 20210111 In: The Journal of dermatology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2856.	Mutations in fliK and flhB affecting flagellar hook and filament assembly in Salmonella typhimurium. [electronic resource] by Williams, A W Yamaguchi, S Togashi, F Aizawa, S I Kawagishi, I Macnab, R M Producer: 19960702 In: Journal of bacteriology vol. 178 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2857.	Relationship between yeast polyribosomes and Upf proteins required for nonsense mRNA decay. [electronic resource] by Atkin, A L Schenkman, L R Eastham, M Dahlseid, J N Lelivelt, M J Culbertson, M R Producer: 19971002 In: The Journal of biological chemistry vol. 272 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2858.	Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease. [electronic resource] by Chao, Sheau-Chiou Tsai, Y-M Yang, M-H Producer: 20020617 In: The British journal of dermatology vol. 146 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2859.	Nonsense-mediated mRNA decay in health and disease. [electronic resource] by Frischmeyer, P A Dietz, H C Producer: 20000713 In: Human molecular genetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2860.	Guanidine reduces stop codon read-through caused by missense mutations in SUP35 or SUP45. [electronic resource] by Bradley, Michael E Bagriantsev, Sviatoslav Vishveshwara, Namitha Liebman, Susan W Producer: 20030711 In: Yeast (Chichester, England) vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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