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	5221.	Saturation mutagenesis of 5S rRNA in Saccharomyces cerevisiae. [electronic resource] by Smith, M W Meskauskas, A Wang, P Sergiev, P V Dinman, J D Producer: 20011221 In: Molecular and cellular biology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5222.	Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome. [electronic resource] by González-Manchón, C Larrucea, S Pastor, A L Butta, N Arias-Salgado, E G Ayuso, M S Parrilla, R Producer: 20020712 In: Thrombosis and haemostasis vol. 86 Availability: No items available. Save to lists Add to cart (remove)
	5223.	An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. [electronic resource] by D'Souza-Li, L Canaff, L Janicic, N Cole, D E Hendy, G N Producer: 20020110 In: Human mutation vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5224.	Downregulation of eRF1 by RNA interference increases mis-acylated tRNA suppression efficiency in human cells. [electronic resource] by Ilegems, Erwin Pick, Horst M Vogel, Horst Producer: 20050628 In: Protein engineering, design & selection : PEDS vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5225.	Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. [electronic resource] by Dobson, C Melissa Gradinger, Abigail Longo, Nicola Wu, Xuchu Leclerc, Daniel Lerner-Ellis, Jordan Lemieux, Melissa Belair, Caroline Watkins, David Rosenblatt, David S Gravel, Roy A Producer: 20060921 In: Molecular genetics and metabolism vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5226.	Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR. [electronic resource] by Riveiro-Alvarez, Rosa Trujillo-Tiebas, Maria José Gimenez-Pardo, Ascension Garcia-Hoyos, Maria Cantalapiedra, Diego Lorda-Sanchez, Isabel Rodriguez de Alba, Marta Ramos, Carmen Ayuso, Carmen Producer: 20060413 In: Molecular vision vol. 11 Availability: No items available. Save to lists Add to cart (remove)
	5227.	Inactivation of the PRDM1/BLIMP1 gene in diffuse large B cell lymphoma. [electronic resource] by Pasqualucci, Laura Compagno, Mara Houldsworth, Jane Monti, Stefano Grunn, Adina Nandula, Subhadra V Aster, Jon C Murty, Vundavally V Shipp, Margaret A Dalla-Favera, Riccardo Producer: 20060403 In: The Journal of experimental medicine vol. 203 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5228.	POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. [electronic resource] by Di Fonzo, Alessio Bordoni, Andreina Crimi, Marco Sara, Galbiati Del Bo, Roberto Bresolin, Nereo Comi, Giacomo P Producer: 20040126 In: Human mutation vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5229.	Characterization of the Arabidopsis thaliana mutant pcb2 which accumulates divinyl chlorophylls. [electronic resource] by Nakanishi, Hiromitsu Nozue, Hatsumi Suzuki, Kenji Kaneko, Yasuko Taguchi, Goro Hayashida, Nobuaki Producer: 20050815 In: Plant & cell physiology vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5230.	Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. [electronic resource] by Savino, Maria d'Apolito, Maria Formica, Vincenza Baorda, Filomena Mari, Francesca Renieri, Alessandra Carabba, Enrico Tarantino, Enrico Andreucci, Elena Belli, Serena Lo Muzio, Lorenzo Dallapiccola, Bruno Zelante, Leopoldo Savoia, Anna Producer: 20050729 In: Human mutation vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5231.	Acute regulation of mouse AE2 anion exchanger requires isoform-specific amino acid residues from most of the transmembrane domain. [electronic resource] by Stewart, A K Kurschat, C E Vaughan-Jones, R D Shmukler, B E Alper, S L Producer: 20080117 In: The Journal of physiology vol. 584 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5232.	Inhibition of nonsense-mediated mRNA decay (NMD) by a new chemical molecule reveals the dynamic of NMD factors in P-bodies. [electronic resource] by Durand, Sébastien Cougot, Nicolas Mahuteau-Betzer, Florence Nguyen, Chi-Hung Grierson, David S Bertrand, Edouard Tazi, Jamal Lejeune, Fabrice Producer: 20071106 In: The Journal of cell biology vol. 178 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5233.	An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology. [electronic resource] by Prontera, P Escande, F Cocchi, G Donti, E Martini, A Sensi, A Producer: 20090330 In: Genetic counseling (Geneva, Switzerland) vol. 19 Availability: No items available. Save to lists Add to cart (remove)
	5234.	Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. [electronic resource] by Nudelman, Igor Rebibo-Sabbah, Annie Cherniavsky, Marina Belakhov, Valery Hainrichson, Mariana Chen, Fuquan Schacht, Jochen Pilch, Daniel S Ben-Yosef, Tamar Baasov, Timor Producer: 20090602 In: Journal of medicinal chemistry vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5235.	Complete knockout of the nociceptin/orphanin FQ receptor in the rat does not induce compensatory changes in mu, delta and kappa opioid receptors. [electronic resource] by Homberg, J R Mul, J D de Wit, E Cuppen, E Producer: 20091215 In: Neuroscience vol. 163 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5236.	Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle. [electronic resource] by Fasquelle, Corinne Sartelet, Arnaud Li, Wanbo Dive, Marc Tamma, Nico Michaux, Charles Druet, Tom Huijbers, Ivo J Isacke, Clare M Coppieters, Wouter Georges, Michel Charlier, Carole Producer: 20100205 In: PLoS genetics vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5237.	Deletion and point mutations of PTHLH cause brachydactyly type E. [electronic resource] by Klopocki, Eva Hennig, Bianca P Dathe, Katarina Koll, Randi de Ravel, Thomy Baten, Emiel Blom, Eveline Gillerot, Yves Weigel, Johannes F W Krüger, Gabriele Hiort, Olaf Seemann, Petra Mundlos, Stefan Producer: 20100415 In: American journal of human genetics vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5238.	A novel I293MP mutation within BCR-ABL kinase domain in a Ph-positive acute lymphoblastic leukemia patient presenting resistant to imatinib but sensitive to nilotinib. [electronic resource] by Kuang, Pu Liu, Ting Huang, Qi Ye, Yuanxin Xiang, Bing Huang, Jie Diwu, Lei Wang, Yuchun Meng, Wentong Dong, Tian Yang, Shengyong Lu, Xiaojun Producer: 20120905 In: Leukemia research vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5239.	A splice variant of ADAMTS13 is expressed in human hepatic stellate cells and cancerous tissues. [electronic resource] by Shomron, Noam Hamasaki-Katagiri, Nobuko Hunt, Ryan Hershko, Klilah Pommier, Elie Geetha, S Blaisdell, Adam Dobkin, Alexandra Marple, Andrew Roma, Isabella Newell, Jordan Allen, Courtni Friedman, Scott Kimchi-Sarfaty, Chava Producer: 20101208 In: Thrombosis and haemostasis vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5240.	Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. [electronic resource] by Smith, Amanda C Mears, Alan J Bunker, Ryan Ahmed, Afsana MacKenzie, Malcolm Schwartzentruber, Jeremy A Beaulieu, Chandree L Ferretti, Emanuela Majewski, Jacek Bulman, Dennis E Celik, Fatma Cakmak Boycott, Kym M Graham, Gail E Producer: 20150129 In: Journal of medical genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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