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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, [ ... ], H. T. Blair

Actionable mutations in canine hemangiosarcoma

Guannan Wang, Ming Wu, [ ... ], David B. Roth

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

Sharon Zierath, Angela M. Hughes, [ ... ], Kari J. Ekenstedt

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

Jason Q. Core, Mehrsa Mehrabi, [ ... ], Anna Grosberg

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

Yohann Jourdy, Nathalie Enjolras, [ ... ], Yesim Dargaud

Genomic analysis of atypical fibroxanthoma

Kevin Lai, Catherine A. Harwood, [ ... ], Sarah T. Arron

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

Ørjan Samuelsen, Søren Overballe-Petersen, [ ... ], on behalf of The Norwegian Study Group on CPE

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

Hana Benhabiles, Sara Gonzalez-Hilarion, [ ... ], Fabrice Lejeune

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

Shiv Kumar Viswanathan, Heather K. Sanders, [ ... ], Sakthivel Sadayappan

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

Ivone U. S. Leong, Alexander Stuckey, [ ... ], Jakob D. Wikstrom

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

Clévia Rosset, Filippo Vairo, [ ... ], Patricia Ashton-Prolla

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, [ ... ], Chi-Ying F. Huang

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

Evgeny M. Makarov, Tatyana A. Shtam, [ ... ], Michael V. Filatov

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