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	4101.	Polypyrimidine tract binding protein 1 protects mRNAs from recognition by the nonsense-mediated mRNA decay pathway. [electronic resource] by Ge, Zhiyun Quek, Bao Lin Beemon, Karen L Hogg, J Robert Producer: 20161026 In: eLife vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4102.	A nucleotide insertion in Exon 2 is responsible for a new HLA-DRB1 null allele, HLA-DRB1*14:166N. [electronic resource] by Testi, M Troiano, M Paladini, E Di Luzio, A Andreani, M Producer: 20161014 In: HLA vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4103.	A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure. [electronic resource] by Fong, Keith S K Hufnagel, Robert B Khadka, Vedbar S Corley, Michael J Maunakea, Alika K Fogelgren, Ben Ahmed, Zubair M Lozanoff, Scott Producer: 20171212 In: Disease models & mechanisms vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4104.	Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations. [electronic resource] by Mårtensson, A Letelier, A Halldén, C Ljung, R Producer: 20170216 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4105.	Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome. [electronic resource] by Yokoyama, Hideki Moreno-Andres, Daniel Astrinidis, Susanne A Hao, Yuqing Weberruss, Marion Schellhaus, Anna K Lue, Hongqi Haramoto, Yoshikazu Gruss, Oliver J Antonin, Wolfram Producer: 20200226 In: Life science alliance vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4106.	A novel murine model for arrhythmogenic cardiomyopathy points to a pathogenic role of Wnt signalling and miRNA dysregulation. [electronic resource] by Calore, Martina Lorenzon, Alessandra Vitiello, Libero Poloni, Giulia Khan, Mohsin A F Beffagna, Giorgia Dazzo, Emanuela Sacchetto, Claudia Polishchuk, Roman Sabatelli, Patrizia Doliana, Roberto Carnevale, Daniela Lembo, Giuseppe Bonaldo, Paolo De Windt, Leon Braghetta, Paola Rampazzo, Alessandra Producer: 20200504 In: Cardiovascular research vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4107.	A novel homozygous frameshift mutation in the [electronic resource] by Saleh-Gohari, Nasrollah Saeidi, Kolsoum Zeighaminejad, Roya Producer: 20180827 In: Journal of clinical pathology vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4108.	BEN3/BIG2 ARF GEF is Involved in Brefeldin A-Sensitive Trafficking at the trans-Golgi Network/Early Endosome in Arabidopsis thaliana. [electronic resource] by Kitakura, Saeko Adamowski, Maciek Matsuura, Yuki Santuari, Luca Kouno, Hirotaka Arima, Kohei Hardtke, Christian S Friml, Jirí Kakimoto, Tatsuo Tanaka, Hirokazu Producer: 20180626 In: Plant & cell physiology vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4109.	Efficacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis not receiving chronic inhaled aminoglycosides: The international, randomized, double-blind, placebo-controlled Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF). [electronic resource] by Konstan, M W VanDevanter, D R Rowe, S M Wilschanski, M Kerem, E Sermet-Gaudelus, I DiMango, E Melotti, P McIntosh, J De Boeck, K Producer: 20210913 In: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4110.	GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia. [electronic resource] by Furukawa, Y Shimadzu, M Rajput, A H Shimizu, Y Tagawa, T Mori, H Yokochi, M Narabayashi, H Hornykiewicz, O Mizuno, Y Kish, S J Producer: 19960613 In: Annals of neurology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4111.	A double mutation in a patient with X-linked myotubular myopathy. [electronic resource] by Tachi, N Kozuka, N Chiba, S Miyaji, M Watanabe, I Producer: 20010719 In: Pediatric neurology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4112.	[Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients]. [electronic resource] by Vorsanova, S G Ulas, V Iu Iurov, Iu B Giovanucci-Uzielli, M L Demidova, I A Gianti, L Villard, L Iurov, I Iu Beresheva, A K Novikov, P V Producer: 20030116 In: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova vol. 102 Availability: No items available. Save to lists Add to cart (remove)
	4113.	[Role and mechanism of NMD (nonsense-mediated mRNA decay)]. [electronic resource] by Ishigaki, Yasuhito Producer: 20030618 In: Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme vol. 48 Availability: No items available. Save to lists Add to cart (remove)
	4114.	Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. [electronic resource] by Neerman-Arbez, Marguerite Vu, Dung Abu-Libdeh, Bassam Bouchardy, Isabelle Morris, Michael A Producer: 20030620 In: Blood vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4115.	Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome. [electronic resource] by Sasahara, Y Kawai, S Kumaki, S Ohashi, Y Minegishi, M Tsuchiya, S Producer: 20000210 In: European journal of pediatrics vol. 159 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4116.	Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. [electronic resource] by Georgiou, T Drousiotou, A Campos, Y Caciotti, A Sztriha, L Gururaj, A Ozand, P Zammarchi, E Morrone, A D'Azzo, A Producer: 20050331 In: Human mutation vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4117.	Gene structure and expression of the mouse APOBEC-1 complementation factor: multiple transcriptional initiation sites and a spliced variant with a premature stop translation codon. [electronic resource] by Dür, Stefan Krause, Kristina Pluntke, Nina Greeve, Jobst Producer: 20041126 In: Biochimica et biophysica acta vol. 1680 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4118.	Site-specific insertion of spin-labeled L-amino acids in Xenopus oocytes. [electronic resource] by Shafer, Aaron M Kálai, Tamás Bin Liu, Sarah Qiao Hideg, Kálmán Voss, John C Producer: 20040903 In: Biochemistry vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4119.	Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. [electronic resource] by Horváth, R Lochmüller, H Hoeltzenbein, M Müller-Höcker, J Schoser, B G Pongratz, D Jaksch, M Producer: 20040927 In: Journal of medical genetics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4120.	Amersham Prize winner. Expanding the genetic code. [electronic resource] by Wang, Lei Producer: 20031110 In: Science (New York, N.Y.) vol. 302 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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