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	421.	Nonsense-mediated mRNA decay of collagen -emerging complexity in RNA surveillance mechanisms. [electronic resource] by Fang, Yiwen Bateman, John F Mercer, Julian F Lamandé, Shireen R Producer: 20140227 In: Journal of cell science vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	422.	Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. [electronic resource] by Finkel, Richard S Flanigan, Kevin M Wong, Brenda Bönnemann, Carsten Sampson, Jacinda Sweeney, H Lee Reha, Allen Northcutt, Valerie J Elfring, Gary Barth, Jay Peltz, Stuart W Producer: 20140925 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	423.	A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family. [electronic resource] by Zhai, Yi Li, Jinyu Zhu, Yanan Xia, Yan Wang, Wei Yu, Yinhui Yao, Ke Producer: 20140919 In: International journal of medical sciences vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	424.	The Fitness Effects of Spontaneous Mutations Nearly Unseen by Selection in a Bacterium with Multiple Chromosomes. [electronic resource] by Dillon, Marcus M Cooper, Vaughn S Producer: 20170518 In: Genetics vol. 204 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	425.	The association between WNT10A variants and dental development in patients with isolated oligodontia. [electronic resource] by Dhamo, Brunilda Fennis, Willem Créton, Marijn Vucic, Strahinja Cune, Marco Ploos van Amstel, Hans Kristian Wolvius, Eppo B van den Boogaard, Marie-José Ongkosuwito, Edwin M Producer: 20170726 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	426.	Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location. [electronic resource] by Vodo, D Sarig, O Peled, A Samuelov, L Malchin, N Grafi-Cohen, M Sprecher, E Producer: 20180518 In: Clinical and experimental dermatology vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	427.	A nonsense variant in the Hexokinase 1 gene (HK1) causing severe non-spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms. [electronic resource] by Jamwal, Manu Aggarwal, Anu Palodi, Arindam Sharma, Prashant Bansal, Deepak Maitra, Arindam Das, Reena Producer: 20200716 In: British journal of haematology vol. 186 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	428.	Gene symbol: CLN3. Disease: juvenile neuronal ceroid lipofuscinosis (Batten disease). [electronic resource] by Leman, A R Pearce, D A Rothberg, P G Producer: 20050412 In: Human genetics vol. 116 Availability: No items available. Save to lists Add to cart (remove)
	429.	Gene symbol: ARSA. Disease: metachromatic leukodystrophy. [electronic resource] by Berna, L Gieselmann, V Poupetova, H Hrebicek, M Elleder, M Ledvinova, J Producer: 20060321 In: Human genetics vol. 118 Availability: No items available. Save to lists Add to cart (remove)
	430.	A nonsense mutation in the Arg345 of the insulin receptor gene in a Japanese type A insulin-resistant patient. [electronic resource] by Hashiramoto, Mitsuru Osawa, Haruhiko Ando, Mitsuhiro Murakami, Akiko Nishimiya, Tatsuya Nakano, Masao Nishida, Wataru Onuma, Hiroshi Makino, Hideichi Producer: 20051214 In: Endocrine journal vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	431.	Quality control of gene expression: a stepwise assembly pathway for the surveillance complex that triggers nonsense-mediated mRNA decay. [electronic resource] by Behm-Ansmant, Isabelle Izaurralde, Elisa Producer: 20060523 In: Genes & development vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	432.	[Treatment of Duchenne muscular dystrophy with gentamicin]. [electronic resource] by Matsuo, Masafumi Takeshima, Yasuhiro Yagi, Mariko Ishibashi, Kazuto Wada, Hiroko Producer: 20040506 In: No to hattatsu = Brain and development vol. 36 Availability: No items available. Save to lists Add to cart (remove)
	433.	Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients. [electronic resource] by Hampel, Heather Panescu, Jenny Lockman, Janet Sotamaa, Kaisa Fix, Daniel Comeras, Ilene LaJeunesse, Jennifer Nakagawa, Hidewaki Westman, Judith A Prior, Thomas W Clendenning, Mark de la Chapelle, Albert Frankel, Wendy Penzone, Pamela Cohn, David E Copeland, Larry Eaton, Lynne Fowler, Jeffrey Lombardi, Janet Dunn, Patti Bell, Jeffrey Reid, Gary Lewandowski, George Vaccarello, Luis Producer: 20071031 In: Cancer research vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	434.	Gene symbol: APC. Disease: adenomatous polyposis coli. [electronic resource] by Chen, Senqing Zhou, Jiannong Zhang, Xiaomei Zhou, Xin Zhu, Ming Cai, Sisi Feng, Bing Li, Jintian Ma, Guojian Zhang, Yuanying Producer: 20070201 In: Human genetics vol. 119 Availability: No items available. Save to lists Add to cart (remove)
	435.	Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. [electronic resource] by Kim, C A Delépine, Marc Boutet, Emilie El Mourabit, Haquima Le Lay, Soazig Meier, Muriel Nemani, Mona Bridel, Etienne Leite, Claudia C Bertola, Debora R Semple, Robert K O'Rahilly, Stephen Dugail, Isabelle Capeau, Jacqueline Lathrop, Mark Magré, Jocelyne Producer: 20080527 In: The Journal of clinical endocrinology and metabolism vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	436.	Novel homozygous nonsense TMC8 mutation detected in patients with epidermodysplasia verruciformis from a Brazilian family. [electronic resource] by Rady, P L De Oliveira, W R P He, Q Festa, C Rivitti, E A Tucker, S B Tyring, S K Producer: 20080306 In: The British journal of dermatology vol. 157 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	437.	Gene symbol: MUTYH. [electronic resource] by Aretz, S Producer: 20070502 In: Human genetics vol. 120 Availability: No items available. Save to lists Add to cart (remove)
	438.	Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis. [electronic resource] by Al-Jasmi, Fatma Abdelhaleem, Mohamed Stockley, Tracy Lee, Kyong-Soon Clarke, Joe T R Producer: 20081014 In: Journal of pediatric hematology/oncology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	439.	Transcriptional robustness complements nonsense-mediated decay in humans. [electronic resource] by Wilke, Claus O Producer: 20120210 In: PLoS genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	440.	Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon. [electronic resource] by Pacho, Frederic Zambruno, Giovanna Calabresi, Valentina Kiritsi, Dimitra Schneider, Holm Producer: 20120313 In: Journal of medical genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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