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	1681.	Identification of a compound beta-thalassemia homozygosity [codon 10 (GCC-->GCA) and codon 16 (-C)] in an Afghan family. [electronic resource] by Krugluger, Walter Hopmeier, Pierre Producer: 20030701 In: Hemoglobin vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1682.	[Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency]. [electronic resource] by Wu, Wen-man Wang, Hong-li Wang, Xue-feng Chu, Hai-yan Fu, Qi-hua Ding, Qiu-lan Hu, Yi-qun Shen, Zhi-xiang Wang, Zhen-yi Producer: 20070504 In: Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi vol. 24 Availability: No items available. Save to lists Add to cart (remove)
	1683.	Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens. [electronic resource] by Hagel, Christian Lindenau, Matthias Lamszus, Katrin Kluwe, Lan Stavrou, Dimitrios Mautner, Victor-Felix Producer: 20021022 In: Acta neuropathologica vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1684.	Forced retroevolution of an RNA bacteriophage. [electronic resource] by Licis, N Balklava, Z Van Duin, J Producer: 20000802 In: Virology vol. 271 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1685.	Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. [electronic resource] by Campagnoli, M F Pucci, A Garelli, E Carando, A Defilippi, C Lala, R Ingrosso, G Dianzani, I Forni, M Ramenghi, U Producer: 20060626 In: Journal of clinical pathology vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1686.	Effect of temperature and ATP supply on the efficiency of programmed nonsense suppression. [electronic resource] by Ahn, Jin-Ho Kim, Nam-Young Kim, Tae-Wan Son, Jeong-Mi Kang, Taek-Jin Park, Chang-Gil Choi, Cha-Yong Kim, Dong-Myung Producer: 20051230 In: Analytical biochemistry vol. 345 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1687.	A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. [electronic resource] by Bikker, H Bakker, H D Abeling, N G G M Poll-The, B T Kleijer, W J Rosenblatt, D S Waterham, H R Wanders, R J A Duran, M Producer: 20060807 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1688.	Gene symbol: MYH7. [electronic resource] by Iascone, M R Marchetti, D Ferrazzi, P Producer: 20070502 In: Human genetics vol. 120 Availability: No items available. Save to lists Add to cart (remove)
	1689.	Pharmacologic therapy for stop mutations: how much CFTR activity is enough? [electronic resource] by Kerem, Eitan Producer: 20050310 In: Current opinion in pulmonary medicine vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1690.	Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL. [electronic resource] by Puisac, Beatriz López-Viñas, Eduardo Moreno, Susana Mir, Cecilia Pérez-Cerdá, Celia Menao, Sebastián Lluch, Dolores Pié, Angeles Gómez-Puertas, Paulino Casals, Nuria Ugarte, Magdalena Hegardt, Faustog Pié, Juan Producer: 20050707 In: Biophysical chemistry vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1691.	Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr). [electronic resource] by Lombardi, Anna Maria Sartori, Maria Teresa Cabrio, Laura Fadin, Mariangela Zanon, Ezio Girolami, Antonio Producer: 20040812 In: Thrombosis and haemostasis vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1692.	Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal. [electronic resource] by Giuffrè, Mario Sammarco, Piero Fabiano, Carmelo Giardina, Fabio Lunetta, Fabio Corsello, Giovanni Producer: 20041222 In: American journal of medical genetics. Part A vol. 128A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1693.	Premature termination codons do not affect the rate of splicing of neighboring introns. [electronic resource] by Lytle, J Robin Steitz, Joan A Producer: 20040503 In: RNA (New York, N.Y.) vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1694.	The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A. [electronic resource] by Ma, G-C Chang, S-P Chen, M Kuo, S-J Chang, C-S Shen, M-C Producer: 20090519 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1695.	Detection of Salmonella by bacteriophage Felix 01. [electronic resource] by Kuhn, Jonathan C Producer: 20080417 In: Methods in molecular biology (Clifton, N.J.) vol. 394 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1696.	Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. [electronic resource] by Zamproni, Ilaria Grasberger, Helmut Cortinovis, Francesca Vigone, Maria Cristina Chiumello, Giuseppe Mora, Stefano Onigata, Kazumichi Fugazzola, Laura Refetoff, Samuel Persani, Luca Weber, Giovanna Producer: 20080410 In: The Journal of clinical endocrinology and metabolism vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1697.	Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1? [electronic resource] by Yang, Chao-Chun Happle, Rudolf Chao, Sheau-Chiou Yu-Yun Lee, Julia Chen, WenChieh Producer: 20080314 In: Journal of the American Academy of Dermatology vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1698.	Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues. [electronic resource] by Zetoune, Almoutassem B Fontanière, Sandra Magnin, Delphine Anczuków, Olga Buisson, Monique Zhang, Chang X Mazoyer, Sylvie Producer: 20090319 In: BMC genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1699.	Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decay. [electronic resource] by Zhang, Zhenguo Xin, Dedong Wang, Ping Zhou, Li Hu, Landian Kong, Xiangyin Hurst, Laurence D Producer: 20090708 In: BMC biology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1700.	Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations. [electronic resource] by Philibert, Pascal Audran, Françoise Pienkowski, Catherine Morange, Isabelle Kohler, Birgit Flori, Elisabeth Heinrich, Claudine Dacou-Voutetakis, Catherine Joseph, Marie-Geneviève Guedj, Anne-Marie Journel, Hubert Hecart-Bruna, Annie-Claude Khotchali, Ines Ten, Svetlana Bouchard, Philippe Paris, Françoise Sultan, Charles Producer: 20100723 In: Fertility and sterility vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 5852 results.