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	5421.	Naturally occurring splicing variants of the hMSH2 gene containing nonsense codons identify possible mRNA instability motifs within the gene coding region. [electronic resource] by Marshall, B Isidro, G Boavida, M G Producer: 19960925 In: Biochimica et biophysica acta vol. 1308 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5422.	Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan. [electronic resource] by Wong, L J Hwu, W L Dai, P Chen, T J Producer: 20010426 In: Molecular genetics and metabolism vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5423.	Correlation between p53 gene mutations and circulating antibodies in betel- and tobacco-consuming North Indian population. [electronic resource] by Ralhan, R Agarwal, S Nath, N Mathur, M Wasylyk, B Srivastava, A Producer: 20010607 In: Oral oncology vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5424.	Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. [electronic resource] by Schwarze, U Schievink, W I Petty, E Jaff, M R Babovic-Vuksanovic, D Cherry, K J Pepin, M Byers, P H 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)
	5425.	Functional properties of natural human PAX6 and PAX6(5a) mutants. [electronic resource] by Chauhan, Bharesh K Yang, Ying Cveklová, Kveta Cvekl, Ales Producer: 20040212 In: Investigative ophthalmology & visual science vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5426.	Mutational analysis of the Drosophila DNA repair and recombination gene mei-9. [electronic resource] by Yildiz, Ozlem Kearney, Hutton Kramer, Benjamin C Sekelsky, Jeff J Producer: 20050118 In: Genetics vol. 167 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5427.	Expression of mutant p193 and p53 permits cardiomyocyte cell cycle reentry after myocardial infarction in transgenic mice. [electronic resource] by Nakajima, Hidehiro Nakajima, Hisako O Tsai, Shih-Chong Field, Loren J Producer: 20041220 In: Circulation research vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5428.	Polymorphism of two very similar MHC class Ib loci in rainbow trout (Oncorhynchus mykiss). [electronic resource] by Dijkstra, Johannes Martinus Kiryu, Ikunari Yoshiura, Yasutoshi Kumánovics, Attila Kohara, Masakazu Hayashi, Nobuhiro Ototake, Mitsuru Producer: 20060619 In: Immunogenetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5429.	Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of Ullrich disease fibroblasts. [electronic resource] by Usuki, Fusako Yamashita, Akio Kashima, Isao Higuchi, Itsuro Osame, Mitsuhiro Ohno, Shigeo Producer: 20061113 In: Molecular therapy : the journal of the American Society of Gene Therapy vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5430.	HIV-2 integrase gene polymorphism and phenotypic susceptibility of HIV-2 clinical isolates to the integrase inhibitors raltegravir and elvitegravir in vitro. [electronic resource] by Roquebert, B Damond, F Collin, G Matheron, S Peytavin, G Bénard, A Campa, P Chêne, G Brun-Vézinet, F Descamps, D Producer: 20081205 In: The Journal of antimicrobial chemotherapy vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5431.	Beneficial read-through of a USH1C nonsense mutation by designed aminoglycoside NB30 in the retina. [electronic resource] by Goldmann, Tobias Rebibo-Sabbah, Annie Overlack, Nora Nudelman, Igor Belakhov, Valery Baasov, Timor Ben-Yosef, Tamar Wolfrum, Uwe Nagel-Wolfrum, Kerstin Producer: 20110113 In: Investigative ophthalmology & visual science vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5432.	Interaction of PABPC1 with the translation initiation complex is critical to the NMD resistance of AUG-proximal nonsense mutations. [electronic resource] by Peixeiro, Isabel Inácio, Ângela Barbosa, Cristina Silva, Ana Luísa Liebhaber, Stephen A Romão, Luísa Producer: 20120402 In: Nucleic acids research vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5433.	A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma. [electronic resource] by Cai, Su-ping Muhemaiti, Paerheti Yin, Yan Cheng, Hongbo Di Ya, A Keyimu, Maliyamu Cao, Xu Fan, Ning Jiang, Liqiong Yan, Naihong Zhou, Xiaomin Wang, Yun Liu, Xuyang Producer: 20121221 In: Molecular vision vol. 18 Availability: No items available. Save to lists Add to cart (remove)
	5434.	Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. [electronic resource] by Leoni, Valerio Strittmatter, Laura Zorzi, Giovanna Zibordi, Federica Dusi, Sabrina Garavaglia, Barbara Venco, Paola Caccia, Claudio Souza, Amanda L Deik, Amy Clish, Clary B Rimoldi, Marco Ciusani, Emilio Bertini, Enrico Nardocci, Nardo Mootha, Vamsi K Tiranti, Valeria Producer: 20120716 In: Molecular genetics and metabolism vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5435.	Correction of nonsense BMPR2 and SMAD9 mutations by ataluren in pulmonary arterial hypertension. [electronic resource] by Drake, Kylie M Dunmore, Benjamin J McNelly, Lauren N Morrell, Nicholas W Aldred, Micheala A Producer: 20131025 In: American journal of respiratory cell and molecular biology vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5436.	Anti-HBV treatment induces novel reverse transcriptase mutations with reflective effect on HBV S antigen. [electronic resource] by Cento, Valeria Van Hemert, Formijn Neumann-Fraune, Maria Mirabelli, Carmen Di Maio, Velia-Chiara Salpini, Romina Bertoli, Ada Micheli, Valeria Gubertini, Guido Romano, Sara Visca, Michela De Sanctis, Giuseppe-Maria Berkhout, Ben Marino, Nicoletta Mazzotta, Francesco Cappiello, Giuseppina Spanò, Alberto Sarrecchia, Cesare Ceccherini-Silberstein, Francesca Andreoni, Massimo Angelico, Mario Verheyen, Jens Perno, Carlo Federico Svicher, Valentina Producer: 20140228 In: The Journal of infection vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5437.	Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1. [electronic resource] by Li, Sisi Xi, Quansheng Zhang, Xiaoyu Yu, Dong Li, Lin Jiang, Zhenyang Chen, Qiuyun Wang, Qing K Traboulsi, Elias I Producer: 20180521 In: Molecular genetics and genomics : MGG vol. 293 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5438.	Mutational and acquired carbapenem resistance mechanisms in multidrug resistant Pseudomonas aeruginosa clinical isolates from Recife, Brazil. [electronic resource] by Cavalcanti, Felipe Lira de Sá Mirones, Cristina Rodríguez Paucar, Elena Román Montes, Laura Álvarez Leal-Balbino, Tereza Cristina Morais, Marcia Maria Camargo de Martínez-Martínez, Luis Ocampo-Sosa, Alain Antonio Producer: 20160601 In: Memorias do Instituto Oswaldo Cruz vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5439.	Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease. [electronic resource] by Razmara, Ehsan Garshasbi, Masoud Producer: 20190314 In: BMC cardiovascular disorders vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5440.	CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model. [electronic resource] by Luan, Chun-Jie Guo, Wenting Chen, Lei Wei, Xi-Wei He, Yimin Chen, Yan Dang, Su-Ying Prior, Robert Li, Xihua Kuang, Ying Wang, Zhu-Gang Van Den Bosch, Ludo Gu, Ming-Min Producer: 20210115 In: Acta neuropathologica communications vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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