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	3681.	Expression studies of mutant factor VIII alleles with premature termination codons with regard to inhibitor formation. [electronic resource] by Zimmermann, M A Oldenburg, J Müller, C R Rost, S Producer: 20150220 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3682.	Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family. [electronic resource] by He, Wen-Tao Chen, Chen Pan, Chu Zhang, Mu-Xun Yu, Xue-Feng Wang, Dao-Wen Hu, Shu-Hong Producer: 20161017 In: Clinical genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3683.	Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures. [electronic resource] by Zheng, Wen Zhang, Jie Deng, Xiong Xiao, Jingjing Yuan, Lamei Yang, Yan Guan, Liping Song, Zhi Yang, Zhijian Deng, Hao Producer: 20161114 In: Molecular neurobiology vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3684.	Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss. [electronic resource] by Sakuma, Naoko Moteki, Hideaki Azaiez, Hela Booth, Kevin T Takahashi, Masahiro Arai, Yasuhiro Shearer, A Eliot Sloan, Christina M Nishio, Shin-Ya Kolbe, Diana L Iwasaki, Satoshi Oridate, Nobuhiko Smith, Richard J H Usami, Shin-Ichi Producer: 20150818 In: The Annals of otology, rhinology, and laryngology vol. 124 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3685.	Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. [electronic resource] by Zeng, Li Wei, Jiahui Han, Dong Liu, Haochen Liu, Yang Zhao, Na Sun, Shichen Wang, Yixiang Feng, Hailan Producer: 20180531 In: Mutagenesis vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3686.	Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA. [electronic resource] by Norppa, Antto J Kauppala, Tuuli M Heikkinen, Harri A Verma, Bhupendra Iwaï, Hideo Frilander, Mikko J Producer: 20180705 In: RNA (New York, N.Y.) vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3687.	Nonsense-mediated mRNA decay factors cure most [PSI+] prion variants. [electronic resource] by Son, Moonil Wickner, Reed B Producer: 20180724 In: Proceedings of the National Academy of Sciences of the United States of America vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3688.	Haploid yeast cells undergo a reversible phenotypic switch associated with chromosome II copy number. [electronic resource] by Drozdova, Polina Mironova, Ludmila Zhouravleva, Galina Producer: 20170908 In: BMC genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3689.	Modulation of nonsense mediated decay by rapamycin. [electronic resource] by Martinez-Nunez, Rocio T Wallace, Andrew Coyne, Doyle Jansson, Linnea Rush, Miles Ennajdaoui, Hanane Katzman, Sol Bailey, Joanne Deinhardt, Katrin Sanchez-Elsner, Tilman Sanford, Jeremy R Producer: 20170814 In: Nucleic acids research vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3690.	A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function. [electronic resource] by Fratta, Pietro Ornaghi, Francesca Dati, Gabriele Zambroni, Desirée Saveri, Paola Belin, Sophie D'Adamo, Patrizia Shy, Michael Quattrini, Angelo Laura Feltri, M Wrabetz, Lawrence Producer: 20190614 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3691.	MHC-I presentation of peptides derived from intact protein products of the pioneer round of translation. [electronic resource] by Weinstein-Marom, Hadas Hendel, Liron Laron, Efrat Avigad Sharabi-Nov, Adi Margalit, Alon Gross, Gideon Producer: 20200525 In: FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3692.	Observation of nine previously reported and 10 non-reported [electronic resource] by Moazzeni, Hamidreza Javadi, Mohammad Ali Asgari, Danial Khani, Marzieh Emami, Mohammad Moghadam, Abolfazl Panahi-Bazaz, Mahmoud-Reza Hosseini Tehrani, Mehdi Karimian, Farid Hosseini, Bagher Nekuie Moghadam, Tayebeh Hassanpour, Hossein Akbari, Mohammad Taghi Elahi, Elahe Producer: 20210226 In: The British journal of ophthalmology vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3693.	Anticonvulsant effect of reduced NMDA receptor expression in audiogenic DBA/2 mice. [electronic resource] by Chapman, A G Woodburn, V L Woodruff, G N Meldrum, B S Producer: 19970414 In: Epilepsy research vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3694.	Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations. [electronic resource] by Montefusco, Maria Claudia Duga, Stefano Asselta, Rosanna Malcovati, Massimo Peyvandi, Flora Santagostino, Elena Mannucci, Pier Mannuccio Tenchini, Maria Luisa Producer: 20040105 In: Blood vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3695.	A new mutation of the ATP-binding cassette, sub-family C, member 2 (ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome. [electronic resource] by Tate, Genshu Li, Min Suzuki, Takao Mitsuya, Toshiyuki Producer: 20030109 In: Genes & genetic systems vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3696.	A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease. [electronic resource] by Hadjigeorgiou, Georgios M Papadimitriou, Alexandros Musumeci, Olimpia Paterakis, Konstantinos Flabouriari, Konstantina Shanske, Sara DiMauro, Salvatore Producer: 20020329 In: Journal of the neurological sciences vol. 194 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3697.	A gene-targeted mouse model for familial hypobetalipoproteinemia. Low levels of apolipoprotein B mRNA in association with a nonsense mutation in exon 26 of the apolipoprotein B gene. [electronic resource] by Kim, E Ambroziak, P Véniant, M M Hamilton, R L Young, S G Producer: 19990126 In: The Journal of biological chemistry vol. 273 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3698.	Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene. [electronic resource] by Lamperti, C Salani, S Lucchiari, S Bordoni, A Ripolone, M Fagiolari, G Fruguglietti, M E Crugnola, V Colombo, C Cappellini, A Prelle, A Bresolin, N Comi, G P Moggio, M Producer: 20130805 In: Journal of inherited metabolic disease vol. 32 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3699.	Pleiotropic phenotypes caused by an opal nonsense mutation in an essential gene encoding HMG-CoA reductase in fission yeast. [electronic resource] by Fang, Yue Imagawa, Kiwamu Zhou, Xin Kita, Ayako Sugiura, Reiko Jaiseng, Wurentuya Kuno, Takayoshi Producer: 20091211 In: Genes to cells : devoted to molecular & cellular mechanisms vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3700.	Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. [electronic resource] by Syrris, Petros Ward, Deirdre Asimaki, Angeliki Sen-Chowdhry, Srijita Ebrahim, Hatim Y Evans, Alison Hitomi, Nobuhiko Norman, Mark Pantazis, Antonios Shaw, Anthony L Elliott, Perry M McKenna, William J Producer: 20060227 In: Circulation vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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