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Mutation

Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis

Theodor Todorov, Prahlad Balakrishnan, [ ... ], Hartmut H. J. Schmidt

A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers

Lauren G. Aoude, Karin Wadt, [ ... ], Nicholas K. Hayward

Allelic Origin of Protease-Sensitive and Protease-Resistant Prion Protein Isoforms in Gerstmann-Sträussler-Scheinker Disease with the P102L Mutation

Salvatore Monaco, Michele Fiorini, [ ... ], Bernardino Ghetti

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

An Angiotensin I-Converting Enzyme Mutation (Y465D) Causes a Dramatic Increase in Blood ACE via Accelerated ACE Shedding

Sergei M. Danilov, Kerry Gordon, [ ... ], Edward D. Sturrock

Potassium Uptake Mediated by Trk1 Is Crucial for Candida glabrata Growth and Fitness

Vicent Llopis-Torregrosa, Barbora Hušeková, Hana Sychrová

Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients

A-Mei Zhang, Xiaoyun Jia, [ ... ], Yong-Gang Yao

Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing

Martin M. J. Kirschner, Mirle Schemionek, [ ... ], Steffen Koschmieder

Insights from Molecular Dynamics Simulations: Structural Basis for the V567D Mutation-Induced Instability of Zebrafish Alpha-Dystroglycan and Comparison with the Murine Model

Davide Pirolli, Francesca Sciandra, [ ... ], Maria Cristina De Rosa

Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world

Samuel Guan Wei Ow, Pei Yi Ong, Soo-Chin Lee

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa

Hui Huang, Yanhua Chen, [ ... ], Xin Yi

A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

Tiecheng Liu, Xin Jin, [ ... ], Weifeng Wang

Allosteric Regulation of HIV-1 Reverse Transcriptase by ATP for Nucleotide Selection

Masaru Yokoyama, Hiromi Mori, Hironori Sato

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