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Mutation detection

Copy Number Analysis of Complement C4A, C4B and C4A Silencing Mutation by Real-Time Quantitative Polymerase Chain Reaction

Riitta Paakkanen, Hanna Vauhkonen, Katja T. Eronen, Asko Järvinen, Mikko Seppänen, Marja-Liisa Lokki

published 21 Jun 2012

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Glucokinase (GCK) Mutations and Their Characterization in MODY2 Children of Southern Italy

Marina Capuano, Carmen Maria Garcia-Herrero, Nadia Tinto, Carla Carluccio, Valentina Capobianco, Iolanda Coto, Arturo Cola, Dario Iafusco, Adriana Franzese, Adriana Zagari, Maria Angeles Navas, Lucia Sacchetti

published 20 Jun 2012

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Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India

Mehul Mistri, Parag M. Tamhankar, Frenny Sheth, Daksha Sanghavi, Pratima Kondurkar, Swapnil Patil, Susan Idicula-Thomas, Sarita Gupta, Jayesh Sheth

published 18 Jun 2012

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High-Throughput Mutation Profiling Identifies Frequent Somatic Mutations in Advanced Gastric Adenocarcinoma

Jeeyun Lee, Paul van Hummelen, Christina Go, Emanuele Palescandolo, Jiryeon Jang, Ha Young Park, So Young Kang, Joon Oh Park, Won Ki Kang, Laura MacConaill, Kyoung-Mee Kim

published 18 Jun 2012

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Novel and Recurrent Mutations of WISP3 in Two Chinese Families with Progressive Pseudorheumatoid Dysplasia

Jing Sun, Weibo Xia, Shuli He, Zhen Zhao, Min Nie, Mei Li, Yan Jiang, Xiaoping Xing, Ou Wang, Xunwu Meng, Xueying Zhou

published 07 Jun 2012

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Congenital Hypogonadotropic Hypogonadism Due to GNRH Receptor Mutations in Three Brothers Reveal Sites Affecting Conformation and Coupling

Javier A. Tello, Claire L. Newton, Jerome Bouligand, Anne Guiochon-Mantel, Robert P. Millar, Jacques Young

published 05 Jun 2012

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High Accuracy Mutation Detection in Leukemia on a Selected Panel of Cancer Genes

Zeynep Kalender Atak, Kim De Keersmaecker, Valentina Gianfelici, Ellen Geerdens, Roel Vandepoel, Daphnie Pauwels, Michaël Porcu, Idoya Lahortiga, Vanessa Brys, Willy G. Dirks, Hilmar Quentmeier, Jacqueline Cloos, Harry Cuppens, Anne Uyttebroeck, Peter Vandenberghe, Jan Cools, Stein Aerts

published 04 Jun 2012

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Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

Eva Müller, Desiree Dunstheimer, Jürgen Klammt, Daniela Friebe, Wieland Kiess, Jürgen Kratzsch, Tassilo Kruis, Sandy Laue, Roland Pfäffle, Tillmann Wallborn, Peter H. Heidemann

published 31 May 2012

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BRCA2 Mutations and Triple-Negative Breast Cancer

Peter Meyer, Katharina Landgraf, Bernhard Högel, Wolfgang Eiermann, Beyhan Ataseven

published 30 May 2012

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Improved Somatic Mutagenesis in Zebrafish Using Transcription Activator-Like Effector Nucleases (TALENs)

Finola E. Moore, Deepak Reyon, Jeffry D. Sander, Sarah A. Martinez, Jessica S. Blackburn, Cyd Khayter, Cherie L. Ramirez, J. Keith Joung, David M. Langenau

published 24 May 2012

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A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

Masaki Takagi, Tomohiro Ishii, Aileen M. Barnes, MaryAnn Weis, Naoko Amano, Mamoru Tanaka, Ryuji Fukuzawa, Gen Nishimura, David R. Eyre, Joan C. Marini, Tomonobu Hasegawa

published 15 May 2012

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KRAS, BRAF and PIK3CA Mutations and the Loss of PTEN Expression in Chinese Patients with Colorectal Cancer

Chen Mao, Junhua Zhou, Zuyao Yang, Yafang Huang, Xinyin Wu, Hong Shen, Jinling Tang, Qing Chen

published 07 May 2012

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Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers

Kai Hang Yiu, Douwe E. Atsma, Victoria Delgado, Arnold C. T. Ng, Tomasz G. Witkowski, See Hooi Ewe, Dominique Auger, Eduard R. Holman, Anneke M. van Mil, Martijn H. Breuning, Hung Fat Tse, Jeroen J. Bax, Martin J. Schalij, Nina Ajmone Marsan

published 04 May 2012

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