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	501.	A nonsense mutation in the SCN9A gene in congenital insensitivity to pain. [electronic resource] by Kurban, Mazen Wajid, Muhammad Shimomura, Yutaka Christiano, Angela M Producer: 20101228 In: Dermatology (Basel, Switzerland) vol. 221 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	502.	Gene symbol: IPF1. Disease: MODY 4. [electronic resource] by Cockburn, B N Bermano, G Boodram, L L Teelucksingh, S Tsuchiya, T Mahabir, D Allan, A B Stein, R Docherty, K Bell, G I Producer: 20050712 In: Human genetics vol. 116 Availability: No items available. Save to lists Add to cart (remove)
	503.	Gene symbol: SLC3A1. Disease: cystinuria. [electronic resource] by Nunes, V font-Llitjós, M Jiménez-Vidal, M Bisceglia, L Palacín, M Producer: 20050412 In: Human genetics vol. 116 Availability: No items available. Save to lists Add to cart (remove)
	504.	Gene symbol: SLC3A1. Disease: cystinuria. [electronic resource] by Nunes, V Font-Llitjós, M Jiménez-Vidal, M Bisceglia, L Palacín, M Producer: 20050412 In: Human genetics vol. 116 Availability: No items available. Save to lists Add to cart (remove)
	505.	Gene symbol: SLC3A1. Disease: cystinuria. [electronic resource] by Nunes, V Font-Llitjós, M Jiménez-Vidal, M Bisceglia, L Di Perna, M de Sanctis, L Rousaud, F Zelante, L Palacín, M Producer: 20050412 In: Human genetics vol. 116 Availability: No items available. Save to lists Add to cart (remove)
	506.	Identification of mutations in exon 14 including five novelties in 13 Italian patients with haemophilia A. [electronic resource] by Acquila, M Pasino, M Lanza, T Molinari, A C Caprino, D Bottini, F Bicocchi, M P Producer: 20050307 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	507.	Gene symbol: NOTCH3. Disease: CADASIL. [electronic resource] by Bianchi, S Scali, O Dotti, M T Pantoni, L Parnetti, L Inzitari, D Federico, A Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	508.	Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. [electronic resource] by Moran, Colin N Yang, Nan Bailey, Mark E S Tsiokanos, Athanasios Jamurtas, Athanasios MacArthur, Daniel G North, Kathryn Pitsiladis, Yannis P Wilson, Richard H Producer: 20070329 In: European journal of human genetics : EJHG vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	509.	Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID). [electronic resource] by Beesley, Clare E Concolino, Daniela Filocamo, Mirella Winchester, Bryan G Strisciuglio, Pietro Producer: 20071206 In: Molecular genetics and metabolism vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	510.	Ure2p function is enhanced by its prion domain in Saccharomyces cerevisiae. [electronic resource] by Shewmaker, Frank Mull, Lori Nakayashiki, Toru Masison, Daniel C Wickner, Reed B Producer: 20070927 In: Genetics vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	511.	Mammalian tissues defective in nonsense-mediated mRNA decay display highly aberrant splicing patterns. [electronic resource] by Weischenfeldt, Joachim Waage, Johannes Tian, Geng Zhao, Jing Damgaard, Inge Jakobsen, Janus Schou Kristiansen, Karsten Krogh, Anders Wang, Jun Porse, Bo T Producer: 20130131 In: Genome biology vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	512.	Nonsense mutation in HLA-B*40:02 in a case with acquired aplastic anaemia: a possible origin of clonal escape from autoimmune insult. [electronic resource] by Osumi, Tomoo Miharu, Masashi Saji, Hiroh Kusunoki, Yasushi Kojima, Hiroto Nakamura, Junko Shimada, Hiroyuki Producer: 20131030 In: British journal of haematology vol. 162 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	513.	A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle. [electronic resource] by Owczarek-Lipska, Marta Plattet, Philippe Zipperle, Ljerka Drögemüller, Cord Posthaus, Horst Dolf, Gaudenz Braunschweig, Martin H Producer: 20110510 In: Genomics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	514.	Sense, missense, and nonsense: a novel mechanism of premature termination codon (PTC) mutation in a severe von Willebrand disease (VWD) patient. [electronic resource] by Kasatkar, Priyanka Kulkarni, Bipin Ghosh, Kanjaksha Shetty, Shrimati Producer: 20150909 In: Annals of hematology vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	515.	A new mutation in GFAP widens the spectrum of Alexander disease. [electronic resource] by Brenner, Michael Messing, Albee Producer: 20150806 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	516.	The C2 protein of Bhendi yellow vein mosaic virus plays an important role in symptom determination and virus replication. [electronic resource] by Chandran, Sam A Jeyabharathy, C Usha, R Producer: 20140919 In: Virus genes vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	517.	Dermatosparaxis in White Dorper sheep: confirmation of a causative nonsense mutation in ADAMTS2. [electronic resource] by Joller, Sara Berenguer Veiga, Inês Drögemüller, Cord Producer: 20180524 In: Animal genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	518.	A novel silent RHCE allele in Chinese population. [electronic resource] by Zhao, F Y Li, Q Zhang, D M Guo, Z H Wu, Y X Wang, F Zhang, J M Qian, M Zhu, Z Y Producer: 20200430 In: Transfusion medicine (Oxford, England) vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	519.	Improvements in health status and utility associated with ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy. [electronic resource] by Landfeldt, Erik Lindberg, Christopher Sejersen, Thomas Producer: 20200410 In: Muscle & nerve vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	520.	Novel EDAR mutation in tooth agenesis and variable associated features. [electronic resource] by Mumtaz, Sara Nalbant, Gökhan Yıldız Bölükbaşı, Esra Huma, Zele Ahmad, Nafees Tolun, Aslıhan Malik, Sajid Producer: 20210329 In: European journal of medical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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