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Nonsense mutation

Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15)

Tianna Zhao, Esther De Graaff, [ ... ], Vincenzo Bonifati

ENU Mutagenesis Identifies Mice with Morbid Obesity and Severe Hyperinsulinemia Caused by a Novel Mutation in Leptin

Chen-Jee Hong, Pei-Jane Tsai, [ ... ], Yau-Sheng Tsai

Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes

Kozo Nagai, Ken Yamamoto, [ ... ], Masaki Yasukawa

The Effect of Gentamicin-Induced Readthrough on a Novel Premature Termination Codon of CD18 Leukocyte Adhesion Deficiency Patients

Amos J. Simon, Atar Lev, [ ... ], Raz Somech

Familial Glucocorticoid Receptor Haploinsufficiency by Non-Sense Mediated mRNA Decay, Adrenal Hyperplasia and Apparent Mineralocorticoid Excess

Jérôme Bouligand, Brigitte Delemer, [ ... ], Marc Lombès

An ADAMTSL2 Founder Mutation Causes Musladin-Lueke Syndrome, a Heritable Disorder of Beagle Dogs, Featuring Stiff Skin and Joint Contractures

Hannah L. Bader, Alison L. Ruhe, [ ... ], Mark W. Neff

Frequent MAGE Mutations in Human Melanoma

Otavia L. Caballero, Qi Zhao, [ ... ], Andrew J. Simpson

A Molecular Analysis of Mutations at the Complex dumpy Locus in Drosophila melanogaster

Amber Carmon, Michael J. Guertin, [ ... ], Ross MacIntyre

SEDLIN Forms Homodimers: Characterisation of SEDLIN Mutations and Their Interactions with Transcription Factors MBP1, PITX1 and SF1

Jeshmi Jeyabalan, M. Andrew Nesbit, [ ... ], Rajesh V. Thakker

Transcription-Associated Mutagenesis Increases Protein Sequence Diversity More Effectively than Does Random Mutagenesis in Escherichia coli

Hyunchul Kim, Baek-Seok Lee, Masaru Tomita, Akio Kanai

Genetic Variability in CLU and Its Association with Alzheimer's Disease

Rita J. Guerreiro, John Beck, [ ... ], John Hardy

The X-Ray Crystal Structure of Escherichia coli Succinic Semialdehyde Dehydrogenase; Structural Insights into NADP⁺/Enzyme Interactions

Christopher G. Langendorf, Trevor L. G. Key, [ ... ], James C. Whisstock

Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy

Peter J. Taylor, Grant A. Betts, [ ... ], Michael F. Buckley

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