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	1021.	Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin. [electronic resource] by Tekin, Burak Yucelten, Deniz Liu, Lu McGrath, John A Producer: 20171011 In: The Australasian journal of dermatology vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1022.	Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay. [electronic resource] by Roman-Sanchez, Ramon Wensel, Theodore G Wilson, John H Producer: 20170613 In: Experimental eye research vol. 145 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1023.	Mutations in Cancer Cause Gain of Cysteine, Histidine, and Tryptophan at the Expense of a Net Loss of Arginine on the Proteome Level. [electronic resource] by Tsuber, Viktoriia Kadamov, Yunus Brautigam, Lars Berglund, Ulrika Warpman Helleday, Thomas Producer: 20180309 In: Biomolecules vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1024.	Mechanism and regulation of the nonsense-mediated decay pathway. [electronic resource] by Hug, Nele Longman, Dasa Cáceres, Javier F Producer: 20160801 In: Nucleic acids research vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1025.	Balancing selection at a premature stop mutation in the myostatin gene underlies a recessive leg weakness syndrome in pigs. [electronic resource] by Matika, Oswald Robledo, Diego Pong-Wong, Ricardo Bishop, Stephen C Riggio, Valentina Finlayson, Heather Lowe, Natalie R Hoste, Annabelle E Walling, Grant A Del-Pozo, Jorge Archibald, Alan L Woolliams, John A Houston, Ross D Producer: 20190311 In: PLoS genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1026.	Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552 [electronic resource] by Ohta, Yasuyuki Tadokoro, Koh Sasaki, Ryo Takahashi, Yoshiaki Sato, Kota Takemoto, Mami Hishikawa, Nozomi Shang, Jingwei Yamashita, Toru Takehisa, Yasushi Nishino, Ichizo Abe, Koji Producer: 20181221 In: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1027.	eRF1 mediates codon usage effects on mRNA translation efficiency through premature termination at rare codons. [electronic resource] by Yang, Qian Yu, Chien-Hung Zhao, Fangzhou Dang, Yunkun Wu, Cheng Xie, Pancheng Sachs, Matthew S Liu, Yi Producer: 20191210 In: Nucleic acids research vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1028.	Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation. [electronic resource] by Zheng, Bixia Wang, Chunli Chen, Qiuxia Che, Ruochen Sha, Yugen Zhao, Fei Ding, Guixia Zhou, Wei Jia, Zhanjun Huang, Songming Chen, Ying Zhang, Aihua Producer: 20210706 In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1029.	Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients. [electronic resource] by Osawa, H Nishimiya, T Ochi, M Niiya, T Onuma, H Kitamuro, F Kaino, Y Kida, K Makino, H Producer: 20010524 In: Clinical genetics vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1030.	Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity. [electronic resource] by Ljung, R Petrini, P Tengborn, L Sjörin, E Producer: 20010614 In: British journal of haematology vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1031.	Facile characterization of translation initiation via nonsense codon suppression. [electronic resource] by Karginov, A V Lodder, M Hecht, S M Producer: 19990923 In: Nucleic acids research vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1032.	Compound heterozygosity for two novel mutations in a severe factor XI deficiency. [electronic resource] by Tsukahara, Akiko Yamada, Takayuki Takagi, Akira Murate, Takashi Matsushita, Tadashi Saito, Hidehiko Kojima, Tetsuhito Producer: 20030916 In: American journal of hematology vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1033.	mRNA surveillance: the perfect persist. [electronic resource] by Wagner, Eileen Lykke-Andersen, Jens Producer: 20030616 In: Journal of cell science vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1034.	alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. [electronic resource] by Hein, Leanne K Bawden, Michael Muller, Vivienne J Sillence, David Hopwood, John J Brooks, Doug A Producer: 20040519 In: Journal of molecular biology vol. 338 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1035.	Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome. [electronic resource] by Pan, Xiaoxia Yan, Jingyin Ren, Hong Zhang, Wen Shi, Hao Yu, Haijin Wang, Chaohui Hao, Cuilan Chen, Xiaonong Chen, Nan Producer: 20041209 In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1036.	Gene symbol: STK11. Disease: Peutz-Jeghers syndrome. [electronic resource] by Schumacher, Valerie Vogel, Tilman Leube, Barbara Driemel, Christiane Goecke, Timm Moeslein, Gabriela Royer-Pokora, Brigitte Producer: 20050712 In: Human genetics vol. 116 Availability: No items available. Save to lists Add to cart (remove)
	1037.	A novel c.C2754 > T transition in the androgen receptor gene introduces the premature termination codon Q798X and results in a truncated form of the receptor. [electronic resource] by Ignacak, M Turek-Plewa, J Limon, J Trzeciak, W H Producer: 20050310 In: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1038.	Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation. [electronic resource] by Ribeiro, Lucilene Arilho Richieri-Costa, Antonio Producer: 20050822 In: American journal of medical genetics. Part A vol. 136A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1039.	Internal ribosome entry sequence-mediated translation initiation triggers nonsense-mediated decay. [electronic resource] by Holbrook, Jill A Neu-Yilik, Gabriele Gehring, Niels H Kulozik, Andreas E Hentze, Matthias W Producer: 20060928 In: EMBO reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1040.	[Ribosome recognizes aberrant translation termination and induces mRNA surveillance system]. [electronic resource] by Inada, Toshifumi Producer: 20070410 In: Seikagaku. The Journal of Japanese Biochemical Society vol. 79 Availability: No items available. Save to lists Add to cart (remove)

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