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	2661.	Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura. [electronic resource] by Ralser, D J Lestringant, G G Du-Thanh, A Kokordelis, P Fischer, J Basmanav, F B Ünalan Wolf, S Thiele, H Altmüller, J Nürnberg, P Oji, V Fritz, G Frank, J Betz, R C Producer: 20190319 In: The British journal of dermatology vol. 177 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2662.	Exon 5 encoding the transmembrane region of HLA-A contains a transitional region for the induction of nonsense-mediated mRNA decay. [electronic resource] by Watanabe, Y Magor, K E Parham, P Producer: 20011227 In: Journal of immunology (Baltimore, Md. : 1950) vol. 167 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2663.	Differential expression of individual gene copies from within a tRNA multigene family in the mulberry silkworm Bombyx mori. [electronic resource] by Srinivasan, L Gopinathan, K P Producer: 20020430 In: Insect molecular biology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2664.	Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity. [electronic resource] by Nijenhuis, Wouter A J Garner, Keith M van Rozen, Rea J Adan, Roger A H Producer: 20030821 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)
	2665.	Select Listeria monocytogenes subtypes commonly found in foods carry distinct nonsense mutations in inlA, leading to expression of truncated and secreted internalin A, and are associated with a reduced invasion phenotype for human intestinal epithelial cells. [electronic resource] by Nightingale, K K Windham, K Martin, K E Yeung, M Wiedmann, M Producer: 20060207 In: Applied and environmental microbiology vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2666.	[A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I]. [electronic resource] by Dou, Wei Peng, Chao Zheng, Jun-ke Gu, Xue-fan Producer: 20090327 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 24 Availability: No items available. Save to lists Add to cart (remove)
	2667.	Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene. [electronic resource] by Oiso, N Mizuno, N Fukai, K Nakagawa, K Ishii, M Producer: 20050324 In: The British journal of dermatology vol. 151 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2668.	Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families. [electronic resource] by Vysokovsky, A Saxena, R Landau, M Zivelin, A Eskaraev, R Rosenberg, N Seligsohn, U Inbal, A Producer: 20050721 In: Journal of thrombosis and haemostasis : JTH vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2669.	Cutting into innate immunity. [electronic resource] by Winoto, Astar Producer: 20040624 In: Nature immunology vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2670.	The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations. [electronic resource] by Panelli, Damiano Petruzzella, Vittoria Vitale, Rita De Rasmo, Domenico Munnich, Arnold Rötig, Agnès Papa, Sergio Producer: 20081126 In: Biochimie vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2671.	A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. [electronic resource] by Zhang, Lu Fu, Songbin Ou, Yangshan Zhao, Tingting Su, Yunjuan Liu, Ping Producer: 20090302 In: Molecular vision vol. 15 Availability: No items available. Save to lists Add to cart (remove)
	2672.	Unique phenotypes of C1s deficiency and abnormality caused by two compound heterozygosities in a Japanese family. [electronic resource] by Abe, Katsuaki Endo, Yuichi Nakazawa, Naomi Kanno, Kazuko Okubo, Mitsuo Hoshino, Tadashi Fujita, Teizo Producer: 20090330 In: Journal of immunology (Baltimore, Md. : 1950) vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2673.	Regulation of multiple core spliceosomal proteins by alternative splicing-coupled nonsense-mediated mRNA decay. [electronic resource] by Saltzman, Arneet L Kim, Yoon Ki Pan, Qun Fagnani, Matthew M Maquat, Lynne E Blencowe, Benjamin J Producer: 20080715 In: Molecular and cellular biology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2674.	A novel therapeutic approach for genetic diseases by introduction of suppressor tRNA. [electronic resource] by Sako, Yusuke Usuki, Fusako Suga, Hiroaki Producer: 20070817 In: Nucleic acids symposium series (2004) no. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2675.	Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa. [electronic resource] by Murauer, Eva M Gache, Yannick Gratz, Iris K Klausegger, Alfred Muss, Wolfgang Gruber, Christina Meneguzzi, Guerrino Hintner, Helmut Bauer, Johann W Producer: 20110124 In: The Journal of investigative dermatology vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2676.	TRAP150 activates pre-mRNA splicing and promotes nuclear mRNA degradation. [electronic resource] by Lee, Kuo-Ming Hsu, Ia-Wen Tarn, Woan-Yuh Producer: 20100622 In: Nucleic acids research vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2677.	Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism. [electronic resource] by Liu, Shiguo Zhang, Shasha Li, Wenjie Zhang, Aiqing Qi, Fengguang Zheng, Guohua Yan, Shengli Ma, Xu Producer: 20120830 In: Twin research and human genetics : the official journal of the International Society for Twin Studies vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2678.	Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs. [electronic resource] by Gultekin, G Inal Raj, K Foureman, P Lehman, S Manhart, K Abdulmalik, O Giger, U Producer: 20121231 In: Journal of veterinary internal medicine vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2679.	Pharmaceutical therapies to recode nonsense mutations in inherited diseases. [electronic resource] by Lee, Hui-Ling Rose Dougherty, Joseph P Producer: 20130408 In: Pharmacology & therapeutics vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2680.	Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. [electronic resource] by Bedeschi, Maria Francesca Bianchi, Vera Gentilin, Barbara Colombo, Lorenzo Natacci, Federica Giglio, Sabrina Andreucci, Elena Trespidi, Laura Acaia, Barbara Furga, Andrea Superti Lalatta, Faustina Producer: 20110705 In: Orphanet journal of rare diseases vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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