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Frameshift mutation

Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G>A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss

Dongyan Fan, Wei Zhu, Dejun Li, De Ji, Ping Wang

published 04 Dec 2014

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A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias

Saima Siddiqi, Jia Nee Foo, Anthony Vu, Saad Azim, David L. Silver, Atika Mansoor, Stacey Kiat Hong Tay, Sumiya Abbasi, Asraf Hussain Hashmi, Jamal Janjua, Sumbal Khalid, E. Shyong Tai, Gene W. Yeo, Chiea Chuen Khor

published 04 Dec 2014

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The Evolutionary Fate of the Horizontally Transferred Agrobacterial Mikimopine Synthase Gene in the Genera Nicotiana and Linaria

Viera Kovacova, Jitka Zluvova, Bohuslav Janousek, Martina Talianova, Boris Vyskot

published 24 Nov 2014

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Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

Michel Guipponi, Federico A. Santoni, Vincent Setola, Corinne Gehrig, Maud Rotharmel, Macarena Cuenca, Olivier Guillin, Dimitris Dikeos, Georgios Georgantopoulos, George Papadimitriou, Logos Curtis, Alexandre Méary, Franck Schürhoff, Stéphane Jamain, Dimitri Avramopoulos, Marion Leboyer, Dan Rujescu, Ann Pulver, Dominique Campion, David P. Siderovski, Stylianos E. Antonarakis

published 24 Nov 2014

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Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

Alireza Haghighi, Amit Tiwari, Niloofar Piri, Gudrun Nürnberg, Nasrollah Saleh-Gohari, Amirreza Haghighi, John Neidhardt, Peter Nürnberg, Wolfgang Berger

published 13 Nov 2014

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The NOD2 p.Leu1007fsX1008 Mutation (rs2066847) Is a Stronger Predictor of the Clinical Course of Crohn's Disease than the FOXO3A Intron Variant rs12212067

Fabian Schnitzler, Matthias Friedrich, Christiane Wolf, Marianne Angelberger, Julia Diegelmann, Torsten Olszak, Florian Beigel, Cornelia Tillack, Johannes Stallhofer, Burkhard Göke, Jürgen Glas, Peter Lohse, Stephan Brand

published 03 Nov 2014

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Expression of Truncated PITX3 in the Developing Lens Leads to Microphthalmia and Aphakia in Mice

Kenta Wada, Yoshibumi Matsushima, Tomoki Tada, Sayaka Hasegawa, Yo Obara, Yasuhiro Yoshizawa, Gou Takahashi, Hiroshi Hiai, Midori Shimanuki, Sari Suzuki, Junichi Saitou, Naoki Yamamoto, Masumi Ichikawa, Kei Watanabe, Yoshiaki Kikkawa

published 27 Oct 2014

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Missense Mutation Lys18Asn in Dystrophin that Triggers X-Linked Dilated Cardiomyopathy Decreases Protein Stability, Increases Protein Unfolding, and Perturbs Protein Structure, but Does Not Affect Protein Function

Surinder M. Singh, Swati Bandi, Dinen D. Shah, Geoffrey Armstrong, Krishna M. G. Mallela

published 23 Oct 2014

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The NPM1 Mutation Type Has No Impact on Survival in Cytogenetically Normal AML

Friederike Pastore, Philipp A. Greif, Stephanie Schneider, Bianka Ksienzyk, Gudrun Mellert, Evelyn Zellmeier, Jan Braess, Cristina M. Sauerland, Achim Heinecke, Utz Krug, Wolfgang E. Berdel, Thomas Buechner, Bernhard Woermann, Wolfgang Hiddemann, Karsten Spiekermann

published 09 Oct 2014

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Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

Satoshi Katagiri, Masakazu Akahori, Yuri Sergeev, Kazutoshi Yoshitake, Kazuho Ikeo, Masaaki Furuno, Takaaki Hayashi, Mineo Kondo, Shinji Ueno, Kazushige Tsunoda, Kei Shinoda, Kazuki Kuniyoshi, Yohinori Tsurusaki, Naomichi Matsumoto, Hiroshi Tsuneoka, Takeshi Iwata

published 30 Sep 2014

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Genetic Features of Late Onset Primary Hemophagocytic Lymphohistiocytosis in Adolescence or Adulthood

Yini Wang, Zhao Wang, Jia Zhang, Qing Wei, Ran Tang, Junyuan Qi, Lihong Li, Liping Ye, Jijun Wang, Ling Ye

published 18 Sep 2014

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Crystal Structure of the Mineralocorticoid Receptor DNA Binding Domain in Complex with DNA

William H. Hudson, Christine Youn, Eric A. Ortlund

published 04 Sep 2014

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Efficient Gene Knockout in Goats Using CRISPR/Cas9 System

Wei Ni, Jun Qiao, Shengwei Hu, Xinxia Zhao, Misha Regouski, Min Yang, Irina A. Polejaeva, Chuangfu Chen

published 04 Sep 2014

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