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	281.	A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. [electronic resource] by Sirmaci, Asli Erbek, Seyra Price, Justin Huang, Mingqian Duman, Duygu Cengiz, F Başak Bademci, Güney Tokgöz-Yilmaz, Suna Hişmi, Burcu Ozdağ, Hilal Oztürk, Banu Kulaksizoğlu, Sevsen Yildirim, Erkan Kokotas, Haris Grigoriadou, Maria Petersen, Michael B Shahin, Hashem Kanaan, Moien King, Mary-Claire Chen, Zheng-Yi Blanton, Susan H Liu, Xue Z Zuchner, Stephan Akar, Nejat Tekin, Mustafa Producer: 20100621 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)
	282.	Dysfibrinogenemia (fibrinogen Wilmington) due to a novel Aalpha chain truncation causing decreased plasma expression and impaired fibrin polymerisation. [electronic resource] by Brennan, Stephen O Mosesson, Michael W Lowen, Robin Frantz, Christopher Producer: 20061030 In: Thrombosis and haemostasis vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	283.	Better late than never for repair of miscoding lesions within a transcribed template. [electronic resource] by Seeberg, Erling Klungland, Arne Producer: 20031210 In: Molecular cell vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	284.	A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier. [electronic resource] by Moran, Jennifer L Qiu, Haiyan Turbe-Doan, Annick Yun, Yujuan Boeglin, William E Brash, Alan R Beier, David R Producer: 20070802 In: The Journal of investigative dermatology vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	285.	Novel human pathological mutations. Gene symbol: PKD1. Disease: human autosomal dominant polycystic kidney disease. [electronic resource] by Li, Li Producer: 20080402 In: Human genetics vol. 122 Availability: No items available. Save to lists Add to cart (remove)
	286.	Lifetime cancer risks of PTEN mutation carriers--letter. [electronic resource] by Daniels, Molly S Rich, Thereasa Weissman, Scott Pilarski, Robert Producer: 20121221 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	287.	Gene symbol: ABCA4. Disease: Macular dystrophy. [electronic resource] by Aguirre, Jana Riveiro-Alvarez, R Cantalapiedra, D Vallespin, E Avila-Fernandez, A Trujillo-Tiebas, M J Villaverde-Montero, C Ayuso, C Producer: 20101124 In: Human genetics vol. 123 Availability: No items available. Save to lists Add to cart (remove)
	288.	A novel androgen receptor gene mutation in a Chinese patient with complete androgen insensitivity syndrome. [electronic resource] by Sun, Shunchang Luo, Fuwei Zhou, Zhiming Wu, Weiqing Producer: 20110224 In: European journal of obstetrics, gynecology, and reproductive biology vol. 153 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	289.	An overhang-based DNA block shuffling method for creating a customized random library. [electronic resource] by Fujishima, Kosuke Venter, Chris Wang, Kendrick Ferreira, Raphael Rothschild, Lynn J Producer: 20160614 In: Scientific reports vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	290.	NMD mechanism and the functions of Upf proteins in plant. [electronic resource] by Dai, Yiming Li, Wenli An, Lijia Producer: 20161213 In: Plant cell reports vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	291.	Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review. [electronic resource] by Li, Niu Xu, Yufei Li, Guoqiang Yu, Tingting Yao, Ru-En Wang, Xiumin Wang, Jian Producer: 20170613 In: Medicine vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	292.	Nonsense mRNA suppression via nonstop decay. [electronic resource] by Arribere, Joshua A Fire, Andrew Z Producer: 20180822 In: eLife vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	293.	Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports. [electronic resource] by Kloth, Katja Synofzik, Matthis Kernstock, Christoph Schimpf-Linzenbold, Simone Schuettauf, Frank Neu, Axel Wissinger, Bernd Weisschuh, Nicole Producer: 20190930 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	294.	Integrated whole-genome and transcriptome sequence analysis reveals the genetic characteristics of a riboflavin-overproducing Bacillus subtilis. [electronic resource] by Wang, Guanglu Shi, Ting Chen, Tao Wang, Xiaoyue Wang, Yongcheng Liu, Dingyu Guo, Jiaxin Fu, Jing Feng, Lili Wang, Zhiwen Zhao, Xueming Producer: 20190722 In: Metabolic engineering vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	295.	Comprehensive genetic characteristics of dystrophinopathies in China. [electronic resource] by Ma, Peipei Zhang, Shu Zhang, Hao Fang, Siying Dong, Yuru Zhang, Yan Hao, Weiwei Wu, Shiwen Zhao, Yuying Producer: 20190415 In: Orphanet journal of rare diseases vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	296.	Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis. [electronic resource] by Li, Xiao-Yao Pu, Na Chen, Wei-Wei Shi, Xiao-Lei Zhang, Guo-Fu Ke, Lu Ye, Bo Tong, Zhi-Hui Wang, Yu-Hui Liu, George Chen, Jian-Min Yang, Qi Li, Wei-Qin Li, Jie-Shou Producer: 20210115 In: Lipids in health and disease vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	297.	Variety of nonsense suppressor phenotypes associated with mutational changes at conserved sites in Escherichia coli ribosomal RNA. [electronic resource] by Murgola, E J Pagel, F T Hijazi, K A Arkov, A L Xu, W Zhao, S Q Producer: 19961107 In: Biochemistry and cell biology = Biochimie et biologie cellulaire vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	298.	Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. [electronic resource] by Pulkkinen, L Uitto, J Producer: 19990104 In: The Journal of investigative dermatology vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	299.	Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene. [electronic resource] by Lagueny, A Latour, P Vital, A Le Masson, G Rouanet, M Ferrer, X Vital, C Vandenberghe, A Producer: 20010329 In: Journal of neurology, neurosurgery, and psychiatry vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	300.	Identification of a new HLA-A null allele, A*2436 N. [electronic resource] by Li, J den Hollander, N van Oosterwijk, A Ng, C-M Singal, D P Producer: 20030507 In: Tissue antigens vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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