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	2341.	A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. [electronic resource] by Farhan, Sali M K Robinson, John F McIntyre, Adam D Marrosu, Maria G Ticca, Anna F Loddo, Sara Carboni, Nicola Brancati, Francesco Hegele, Robert A Producer: 20150218 In: The Canadian journal of cardiology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2342.	Disrupted-in-Schizophrenia-1 is essential for normal hypothalamic-pituitary-interrenal (HPI) axis function. [electronic resource] by Eachus, Helen Bright, Charlotte Cunliffe, Vincent T Placzek, Marysia Wood, Jonathan D Watt, Penelope J Producer: 20171017 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2343.	Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation. [electronic resource] by Pascolini, Giulia Valiante, Michele Majore, Silvia Cariola, Filomena Laino, Luigi Calvani, Mauro Grammatico, Paola Producer: 20190328 In: Minerva pediatrica vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2344.	Japanese case of xeroderma pigmentosum complementation group C with a novel mutation. [electronic resource] by Tamesada, Yukari Nakano, Eiji Tsujimoto, Mariko Masaki, Taro Yoshida, Kazue Niizeki, Hironori Nishigori, Chikako Producer: 20191002 In: The Journal of dermatology vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2345.	ATP hydrolysis by UPF1 is required for efficient translation termination at premature stop codons. [electronic resource] by Serdar, Lucas D Whiteside, DaJuan L Baker, Kristian E Producer: 20180904 In: Nature communications vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2346.	Premature termination codon readthrough in human cells occurs in novel cytoplasmic foci and requires UPF proteins. [electronic resource] by Jia, Jieshuang Werkmeister, Elisabeth Gonzalez-Hilarion, Sara Leroy, Catherine Gruenert, Dieter C Lafont, Frank Tulasne, David Lejeune, Fabrice Producer: 20180605 In: Journal of cell science vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2347.	Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report. [electronic resource] by Charnwichai, Pattaranatcha Yeetong, Patra Suphapeetiporn, Kanya Supornsilchai, Vichit Sahakitrungruang, Taninee Shotelersuk, Vorasuk Producer: 20170118 In: BMC endocrine disorders vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2348.	A nonsense mutation of Stim1 identified in stroke-prone spontaneously hypertensive rats decreased the store-operated calcium entry in astrocytes. [electronic resource] by Ohara, Hiroki Nabika, Toru Producer: 20170523 In: Biochemical and biophysical research communications vol. 476 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2349.	Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly. [electronic resource] by Wang, Bo Li, Niu Geng, Juan Wang, Zhigang Fu, Qihua Wang, Jian Xu, Yunlan Producer: 20170206 In: Congenital anomalies vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2350.	Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice. [electronic resource] by Tucker, Elena J Grover, Sonia R Robevska, Gorjana van den Bergen, Jocelyn Hanna, Chloe Sinclair, Andrew H Producer: 20190403 In: European journal of human genetics : EJHG vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2351.	The Adenomatous Polyposis Coli (APC) mutation spectra in different anatomical regions of the large intestine in colorectal cancer. [electronic resource] by Zhang, Min Yang, Da Gold, Barry Producer: 20190314 In: Mutation research vol. 810 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2352.	AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent [electronic resource] by Barny, Iris Perrault, Isabelle Michel, Christel Goudin, Nicolas Defoort-Dhellemmes, Sabine Ghazi, Imad Kaplan, Josseline Rozet, Jean-Michel Gerard, Xavier Producer: 20200214 In: Genes vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2353.	Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65. [electronic resource] by Li, Songhua Green, John F Jin, Minghao Producer: 20201007 In: FEBS letters vol. 594 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2354.	Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide. [electronic resource] by Lee, G Y Astrin, K H Desnick, R J Producer: 19960129 In: American journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2355.	Fast and efficient mutation detection method using multiplex PCR and cycle sequencing--application to haemophilia B. [electronic resource] by Costa, J M Ernault, P Vidaud, D Vidaud, M Meyer, D Lavergne, J M Producer: 20000511 In: Thrombosis and haemostasis vol. 83 Availability: No items available. Save to lists Add to cart (remove)
	2356.	Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. [electronic resource] by Fonknechten, N Mavel, D Byrne, P Davoine, C S Cruaud, C Bönsch, D Boentsch, D Samson, D Coutinho, P Hutchinson, M McMonagle, P Burgunder, J M Tartaglione, A Heinzlef, O Feki, I Deufel, T Parfrey, N Brice, A Fontaine, B Prud'homme, J F Weissenbach, J Dürr, A Hazan, J Producer: 20000414 In: Human molecular genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2357.	New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism. [electronic resource] by Hoenicka, J Vidal, L Godoy, M Ochoa, J J García de Yébenes, J Producer: 20010830 In: Movement disorders : official journal of the Movement Disorder Society vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2358.	Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. [electronic resource] by Jakobs, P M Hanson, E L Crispell, K A Toy, W Keegan, H Schilling, K Icenogle, T B Litt, M Hershberger, R E Producer: 20011011 In: Journal of cardiac failure vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2359.	A novel beta0-thalassemia mutation at codon 55 (-A) and a rare 17 bp deletion at codons 126-131 in the Indian population. [electronic resource] by Nadkarni, Anita Sakaguchi, Takehisa Takaku, Hiroshi Gorakshakar, Ajit Phanasgaonkar, Supriya Colah, Roshan B Mohanty, Dipika Kiyama, Ryoiti Producer: 20020920 In: Hemoglobin vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2360.	Soluble corticotropin-releasing hormone receptor 2alpha splice variant is efficiently translated but not trafficked for secretion. [electronic resource] by Evans, Ryan T Seasholtz, Audrey F Producer: 20090916 In: Endocrinology vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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