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Mutation

High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation

Petra Liskova, Rhian Gwilliam, Martin Filipec, Katerina Jirsova, Stanislava Reinstein Merjava, Panos Deloukas, Tom R. Webb, Shomi S. Bhattacharya, Neil D. Ebenezer, Alex G. Morris, Alison J. Hardcastle

published 25 Sep 2012

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Amino Acids Transitioning of 2009 H1N1pdm in Taiwan from 2009 to 2011

Guang-Wu Chen, Kuo-Chien Tsao, Chung-Guei Huang, Yu-Nong Gong, Shih-Cheng Chang, Yi-Chun Liu, Hsiao-Han Wu, Shu-Li Yang, Tzou-Yien Lin, Yhu-Chering Huang, Shin-Ru Shih

published 24 Sep 2012

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The Unique Cysteine Knot Regulates the Pleotropic Hormone Leptin

Ellinor Haglund, Joanna I. Sułkowska, Zhao He, Gen-Sheng Feng, Patricia A. Jennings, José N. Onuchic

published 24 Sep 2012

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Lamin A/C Mutants Disturb Sumo1 Localization and Sumoylation in Vitro and in Vivo

Émilie Boudreau, Sarah Labib, Anne T. Bertrand, Valérie Decostre, Pierrette M. Bolongo, Nicolas Sylvius, Gisèle Bonne, Frédérique Tesson

published 21 Sep 2012

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Functional Characterization of Newly-Discovered Mutations in Human SR-BI

Alexandra C. Chadwick, Daisy Sahoo

published 21 Sep 2012

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Novel HRPT2/CDC73 Gene Mutations and Loss of Expression of Parafibromin in Chinese Patients with Clinically Sporadic Parathyroid Carcinomas

Ou Wang, Chunyan Wang, Min Nie, Quancai Cui, Heng Guan, Yan Jiang, Mei Li, Weibo Xia, Xunwu Meng, Xiaoping Xing

published 20 Sep 2012

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Characterization of PTPRG in Knockdown and Phosphatase-Inactive Mutant Mice and Substrate Trapping Analysis of PTPRG in Mammalian Cells

Wandong Zhang, Katerina V. Savelieva, David T. Tran, Vladimir M. Pogorelov, Emily B. Cullinan, Kevin B. Baker, Kenneth A. Platt, Sean Hu, Indrani Rajan, Nianhua Xu, Thomas H. Lanthorn

published 20 Sep 2012

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The Genomic Landscape of TP53 and p53 Annotated High Grade Ovarian Serous Carcinomas from a Defined Founder Population Associated with Patient Outcome

Paulina M. Wojnarowicz, Kathleen Klein Oros, Michael C. J. Quinn, Suzanna L. Arcand, Karen Gambaro, Jason Madore, Ashley H. Birch, Manon de Ladurantaye, Kurosh Rahimi, Diane M. Provencher, Anne-Marie Mes-Masson, Celia M. T. Greenwood, Patricia N. Tonin

published 20 Sep 2012

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Identification of Genes from the Fungal Pathogen Cryptococcus neoformans Related to Transmigration into the Central Nervous System

Hsiang-Kuang Tseng, Chang-Pan Liu, Michael S. Price, Ambrose Y. Jong, Jui-Chih Chang, Dena L. Toffaletti, Marisol Betancourt-Quiroz, Aubrey E. Frazzitta, Wen-Long Cho, John R. Perfect

published 20 Sep 2012

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U2AF1 Mutations in Chinese Patients with Acute Myeloid Leukemia and Myelodysplastic Syndrome

Jun Qian, Dong-ming Yao, Jiang Lin, Wei Qian, Cui-zhu Wang, Hai-yan Chai, Jing Yang, Yun Li, Zhao-qun Deng, Ji-chun Ma, Xing-xing Chen

published 19 Sep 2012

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

Tiecheng Liu, Xin Jin, Xuemin Zhang, Huijun Yuan, Jing Cheng, Janet Lee, Baoquan Zhang, Maonian Zhang, Jing Wu, Lijuan Wang, Geng Tian, Weifeng Wang

published 19 Sep 2012

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RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome

Paulina Carmona-Mora, Cesar P. Canales, Lei Cao, Irene C. Perez, Anand K. Srivastava, Juan I. Young, Katherina Walz

published 18 Sep 2012

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AmyR Is a Novel Negative Regulator of Amylovoran Production in Erwinia amylovora

Dongping Wang, Schuyler S. Korban, P. Lawrence Pusey, Youfu Zhao

published 18 Sep 2012

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