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Nonsense mutation

Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene

K. E. Dittmer, R. D. Jolly, I. G. Mayhew, A. L. Ridler, A. Chernyavtseva, D. J. Garrick, H. T. Blair

published 18 Dec 2017

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Actionable mutations in canine hemangiosarcoma

Guannan Wang, Ming Wu, Martha A. Maloneyhuss, John Wojcik, Amy C. Durham, Nicola J. Mason, David B. Roth

published 30 Nov 2017

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Frequency of five disease-causing genetic mutations in a large mixed-breed dog population (2011–2012)

Sharon Zierath, Angela M. Hughes, Neale Fretwell, Mark Dibley, Kari J. Ekenstedt

published 22 Nov 2017

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Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations

Jason Q. Core, Mehrsa Mehrabi, Zachery R. Robinson, Alexander R. Ochs, Linda A. McCarthy, Michael V. Zaragoza, Anna Grosberg

published 17 Nov 2017

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Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?

Yohann Jourdy, Nathalie Enjolras, Sandra Le Quellec, Jean Claude Bordet, Claude Négrier, Christine Vinciguerra, Yesim Dargaud

published 16 Nov 2017

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Genomic analysis of atypical fibroxanthoma

Kevin Lai, Catherine A. Harwood, Karin J. Purdie, Charlotte M. Proby, Irene M. Leigh, Namita Ravi, Thaddeus W. Mully, Lionel Brooks, Priscilla M. Sandoval, Michael D. Rosenblum, Sarah T. Arron

published 15 Nov 2017

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Molecular and epidemiological characterization of carbapenemase-producing Enterobacteriaceae in Norway, 2007 to 2014

Ørjan Samuelsen, Søren Overballe-Petersen, Jørgen Vildershøj Bjørnholt, Sylvain Brisse, Michel Doumith, Neil Woodford, Katie L. Hopkins, Bettina Aasnæs, Bjørg Haldorsen, Arnfinn Sundsfjord, on behalf of The Norwegian Study Group on CPE

published 15 Nov 2017

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Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases

Hana Benhabiles, Sara Gonzalez-Hilarion, Séverine Amand, Christine Bailly, Anne Prévotat, Philippe Reix, Dominique Hubert, Eric Adriaenssens, Sylvie Rebuffat, David Tulasne, Fabrice Lejeune

published 13 Nov 2017

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Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage

Shiv Kumar Viswanathan, Heather K. Sanders, James W. McNamara, Aravindakshan Jagadeesan, Arshad Jahangir, A. Jamil Tajik, Sakthivel Sadayappan

published 09 Nov 2017

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Novel mutations in Darier disease and association to self-reported disease severity

Ivone U. S. Leong, Alexander Stuckey, Tara Ahanian, Martin Cederlöf, Jakob D. Wikstrom

published 13 Oct 2017

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Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis

Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Rudinei Luis Correia, Fernanda Veiga de Goes, Raquel Tavares Boy da Silva, Larissa Souza Mario Bueno, Mireille Caroline Silva de Miranda Gomes, Henrique de Campos Reis Galvão, João I. C. F. Neri, Maria Isabel Achatz, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla

published 02 Oct 2017

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The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels

Pi-Lin Sung, Kuo-Chang Wen, Yi-Jen Chen, Ta-Chung Chao, Yi-Fang Tsai, Ling-Ming Tseng, Jian-Tai Timothy Qiu, Kuan-Chong Chao, Hua-Hsi Wu, Chi-Mu Chuang, Peng-Hui Wang, Chi-Ying F. Huang

published 29 Sep 2017

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The rare nonsense mutation in p53 triggers alternative splicing to produce a protein capable of inducing apoptosis

Evgeny M. Makarov, Tatyana A. Shtam, Roman A. Kovalev, Rimma A. Pantina, Elena Yu Varfolomeeva, Michael V. Filatov

published 29 Sep 2017

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