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Nonsense mutation

How the Leopard Hides Its Spots: ASIP Mutations and Melanism in Wild Cats

Alexsandra Schneider, Victor A. David, [ ... ], Eduardo Eizirik

The Bioenergetic Status Relates to Dopamine Neuron Loss in Familial PD with PINK1 Mutations

Rüediger Hilker, Ulrich Pilatus, [ ... ], Elke Hattingen

Frequent Alteration of the Tumor Suppressor Gene APC in Sporadic Canine Colorectal Tumors

Lydia Youmans, Cynthia Taylor, [ ... ], Shaying Zhao

A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis

Jianning Tao, Maranke I. Koster, [ ... ], Paul A. Overbeek

Expression Levels of the ABCG2 Multidrug Transporter in Human Erythrocytes Correspond to Pharmacologically Relevant Genetic Variations

Ildikó Kasza, György Várady, [ ... ], Balázs Sarkadi

Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered

Kristin K. McDonald, Jeffrey Stajich, [ ... ], Michael A. Hauser

Functional Assessment of Human Coding Mutations Affecting Skin Pigmentation Using Zebrafish

Zurab R. Tsetskhladze, Victor A. Canfield, [ ... ], Keith C. Cheng

Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants

Marga Sturm, Diran Herebian, [ ... ], Ute Spiekerkoetter

A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation

Sian E. Piret, Christopher T. Esapa, [ ... ], Rajesh V. Thakker

Development of Transgenic Mice Containing an Introduced Stop Codon on the Human Methylmalonyl-CoA Mutase Locus

Nicole E. Buck, Harriet Dashnow, [ ... ], Heidi L. Peters

Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections

Amandine Crequer, Capucine Picard, [ ... ], Emmanuelle Jouanguy

A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish

Vandana A. Gupta, Genri Kawahara, [ ... ], Alan H. Beggs

Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

Qin Liu, Rob W. J. Collin, [ ... ], Eric A. Pierce

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