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	561.	Gene symbol: EDA. Disease: Ectodermal dysplasia. [electronic resource] by Conte, Chiara Producer: 20101124 In: Human genetics vol. 123 Availability: No items available. Save to lists Add to cart (remove)
	562.	New HNF-1α nonsense mutation causes maturity-onset diabetes of the young type 3. [electronic resource] by Nogaroto, Viviane Svidnicki, Paulo Vinicius Bonatto, Naieli Milléo, Fábio Quirillo Almeida, Mara Cristina de Vicari, Marcelo Ricardo Artoni, Roberto Ferreira Producer: 20111102 In: Clinics (Sao Paulo, Brazil) vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	563.	Morgagnian cataract resulting from a naturally occurring nonsense mutation elucidates a role of CPAMD8 in mammalian lens development. [electronic resource] by Hollmann, Anne K Dammann, Insa Wemheuer, Wiebke M Wemheuer, Wilhelm E Chilla, Almuth Tipold, Andrea Schulz-Schaeffer, Walter J Beck, Julia Schütz, Ekkehard Brenig, Bertram Producer: 20171006 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	564.	Chemical-Induced Read-Through at Premature Termination Codons Determined by a Rapid Dual-Fluorescence System Based on S. cerevisiae. [electronic resource] by Altamura, Emiliano Borgatti, Monica Finotti, Alessia Gasparello, Jessica Gambari, Roberto Spinelli, Mariangela Castaldo, Rosa Altamura, Nicola Producer: 20170316 In: PloS one vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	565.	Acrodermatitis enteropathica: A novel mutation of the SLC39A4 gene in a Turkish boy. [electronic resource] by Kaya Erdogan, Hilal Bulur, Isil Saracoglu, Zeynep Nurhan Aslan, Huseyin Aydogdu, Sultan Durmuş Yildiz, Bahadir Producer: 20170522 In: The Journal of dermatology vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	566.	Severe female hemophilia A patient caused by a nonsense mutation (p.Gln1686X) of F8 gene combined with skewed X-chromosome inactivation. [electronic resource] by Zheng, Jiayong Ma, Weide Xie, Bingshou Zhu, Miaoyong Zhang, Chenhui Li, Jianxin Wang, Yingyu Wang, Mingshan Jin, Yanhui Producer: 20160810 In: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	567.	Chemotherapeutics overcoming nonsense mutation-associated genetic diseases: medicinal chemistry of negamycin. [electronic resource] by Taguchi, Akihiro Hamada, Keisuke Hayashi, Yoshio Producer: 20190501 In: The Journal of antibiotics vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	568.	Tokyo-1 Mutation: Hereditary Spherocytosis in a Hispanic Newborn Presenting as Early Onset Severe Hyperbilirubinemia. [electronic resource] by Tan, April W Leung, Pablo Patil, Uday P Producer: 20190523 In: Fetal and pediatric pathology vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	569.	Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies. [electronic resource] by Hu, Pengzhi Yuan, Lamei Deng, Hao Producer: 20190415 In: Mutation research. Reviews in mutation research vol. 778 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	570.	A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings. [electronic resource] by Çakmaklı, Seda Kaplan, Çiğdem Uzunoğlu, Mehmet Büyükbayram, Merve Görgülü, Emel Zarif, Nurten Özkan Keskin, Ebru Yılmaz Producer: 20210819 In: The Turkish journal of pediatrics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	571.	Two novel gene mutations in type I antithrombin deficiency. [electronic resource] by Niiya, K Kiguchi, T Dansako, H Fujimura, K Fujimoto, T Iijima, K Tanimoto, M Harada, M Producer: 20020919 In: International journal of hematology vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	572.	In vitro fibrin clot formation and fibrinolysis using heterozygous plasma fibrinogen from gammaAsn319, Asp320 deletion dysfibrinogen, Otsu I. [electronic resource] by Terasawa, Fumiko Kani, Satomi Hongo, Minoru Okumura, Nobuo Producer: 20070118 In: Thrombosis research vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	573.	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)
	574.	Transcript selection and the recruitment of mRNA decay factors for NMD in Saccharomyces cerevisiae. [electronic resource] by Culbertson, Michael R Neeno-Eckwall, Eric Producer: 20051007 In: RNA (New York, N.Y.) vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	575.	Translational readthrough induction of pathogenic nonsense mutations. [electronic resource] by Kellermayer, Richard Producer: 20070220 In: European journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	576.	Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin. [electronic resource] by Kim, Hyunmi Wajid, Muhammad Kraemer, Liv Shimomura, Yutaka Christiano, Angela M Producer: 20080117 In: Journal of dermatological science vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	577.	Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. [electronic resource] by Jim, Hoi Ping Upadhyaya, Meena Producer: 20100217 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)
	578.	PTC124 for cystic fibrosis. [electronic resource] by Goodier, John L Mayer, Jens Producer: 20090512 In: Lancet (London, England) vol. 373 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	579.	Hereditary diffuse gastric cancer: strategies to reduce tumoral risk. [electronic resource] by Herráiz, Maite Valentí, Víctor Sola, Jesús Pérez-Rojo, Pilar Rotellar, Fernando Cienfuegos, Javier A Producer: 20121102 In: Revista espanola de enfermedades digestivas vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	580.	Loop-tail phenotype in heterozygous mice and neural tube defects in homozygous mice result from a nonsense mutation in the Vangl2 gene. [electronic resource] by Chen, B Mao, H H Chen, L Zhang, F L Li, K Xue, Z F Producer: 20140408 In: Genetics and molecular research : GMR vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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