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Mutation

KIT Mutation and Loss of 14q May Be Sufficient for the Development of Clinically Symptomatic Very Low-Risk GIST

Olaf Karl Klinke, Tuba Mizani, Gouri Baldwin, Brigitte Bancel, Mojgan Devouassoux-Shisheboran, Jean-Yves Scoazec, Pierre-Paul Bringuier, Regina Feederle, Anna Jauch, Katrin Hinderhofer, Philippe Taniere, Henri-Jacques Delecluse

published 23 Jun 2015

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Phenotype–Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy

Dandan Tan, Haipo Yang, Yun Yuan, Carsten Bonnemann, Xingzhi Chang, Shuang Wang, Yuchen Wu, Xiru Wu, Hui Xiong

published 22 Jun 2015

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TAE226, a Bis-Anilino Pyrimidine Compound, Inhibits the EGFR-Mutant Kinase Including T790M Mutant to Show Anti-Tumor Effect on EGFR-Mutant Non-Small Cell Lung Cancer Cells

Hiroki Otani, Hiromasa Yamamoto, Munenori Takaoka, Masakiyo Sakaguchi, Junichi Soh, Masaru Jida, Tsuyoshi Ueno, Takafumi Kubo, Hiroaki Asano, Kazunori Tsukuda, Katsuyuki Kiura, Shinji Hatakeyama, Eiji Kawahara, Yoshio Naomoto, Shinichiro Miyoshi, Shinichi Toyooka

published 19 Jun 2015

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Evolutionary Trends of the Transposase-Encoding Open Reading Frames A and B (orfA and orfB) of the Mycobacterial IS6110 Insertion Sequence

Sara Thabet, Amine Namouchi, Helmi Mardassi

published 18 Jun 2015

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Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions

Ewa Golanska, Agata Gajos, Monika Sieruta, Malgorzata Szybka, Monika Rudzinska, Stanislaw Ochudlo, Tomasz Kmiec, Pawel P. Liberski, Andrzej Bogucki

published 18 Jun 2015

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High Inter-Individual Diversity of Point Mutations, Insertions, and Deletions in Human Influenza Virus Nucleoprotein-Specific Memory B Cells

Sven Reiche, Yamen Dwai, Bianca M. Bussmann, Susanne Horn, Michael Sieg, Christian Jassoy

published 18 Jun 2015

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Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone

Erik Hallengren, Peter Almgren, Gunnar Engström, Margaretha Persson, Olle Melander

published 18 Jun 2015

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Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers

Pawel Domagala, Anna Jakubowska, Katarzyna Jaworska-Bieniek, Katarzyna Kaczmarek, Katarzyna Durda, Agnieszka Kurlapska, Cezary Cybulski, Jan Lubinski

published 17 Jun 2015

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Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China

Chunrong Wang, Zhao Chen, Fang Yang, Bin Jiao, Huirong Peng, Yuting Shi, Yaqin Wang, Fengzhen Huang, Junling Wang, Lu Shen, Kun Xia, Beisha Tang, Tetsuo Ashizawa, Hong Jiang

published 17 Jun 2015

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Rapid, Sensitive, and Accurate Evaluation of Drug Resistant Mutant (NS5A-Y93H) Strain Frequency in Genotype 1b HCV by Invader Assay

Satoshi Yoshimi, Hidenori Ochi, Eisuke Murakami, Takuro Uchida, Hiromi Kan, Sakura Akamatsu, C. Nelson Hayes, Hiromi Abe, Daiki Miki, Nobuhiko Hiraga, Michio Imamura, Hiroshi Aikata, Kazuaki Chayama

published 17 Jun 2015

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Molecular Mechanism for the Thermo-Sensitive Phenotype of CHO-MT58 Cell Line Harbouring a Mutant CTP:Phosphocholine Cytidylyltransferase

Lívia Marton, Gergely N. Nagy, Olivér Ozohanics, Anikó Lábas, Balázs Krámos, Julianna Oláh, Károly Vékey, Beáta G. Vértessy

published 17 Jun 2015

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Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy

Sachie Nakano, Takahiro Tsukimura, Tadayasu Togawa, Toya Ohashi, Masahisa Kobayashi, Katsuyoshi Takayama, Yukuharu Kobayashi, Hiroshi Abiko, Masatsugu Satou, Tohru Nakahata, David G. Warnock, Hitoshi Sakuraba, Futoshi Shibasaki

published 17 Jun 2015

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Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis

Sai-Li Xie, Tan-Zhou Chen, Xie-Lin Huang, Chao Chen, Rong Jin, Zhi-Ming Huang, Meng-Tao Zhou

published 16 Jun 2015

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