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Deletion mutation

Spontaneous asj-2J Mutant Mouse as a Model for Generalized Arterial Calcification of Infancy: A Large Deletion/Insertion Mutation in the Enpp1 Gene

Qiaoli Li, C. Herbert Pratt, Louise A. Dionne, Heather Fairfield, Son Yong Karst, John P. Sundberg, Jouni Uitto

published 05 Dec 2014

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TP53 Pro72 Allele Is Enriched in Oral Tongue Cancer and Frequently Mutated in Esophageal Cancer in India

Raju S. R. Adduri, Rajender Katamoni, Ramaswamy Pandilla, Sandeep N. Madana, Arun Kumar Paripati, Viswakalyan Kotapalli, Murali Dharan Bashyam

published 01 Dec 2014

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Novel KRAS Gene Mutations in Sporadic Colorectal Cancer

Walid M. Naser, Mohamed A. Shawarby, Dalal M. Al-Tamimi, Arun Seth, Abdulaziz Al-Quorain, Areej M. Al Nemer, Omar M. E. Albagha

published 20 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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Presence of C1-Inhibitor Polymers in a Subset of Patients Suffering from Hereditary Angioedema

Daniel Elenius Madsen, Søren Hansen, Jørgen Gram, Anette Bygum, Christian Drouet, Johannes Jakobsen Sidelmann

published 04 Nov 2014

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PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

Maria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti, Giovanni P. Gesu, Lucio Giordano Accorsi, Stefano Parmigiani, Maria Franca Corona, Valeria Capra, Andrea Mosca, Simona Giovannini, Francesca Notturno, Fausta Ciccocioppo, Lilia Volpi, Margherita Estienne, Giuseppe De Michele, Antonella Antenora, Leda Bilo, Antonietta Tavoni, Nelia Zamponi, Enrico Alfei, Giovanni Baranello, Daria Riva, Silvana Penco

published 29 Oct 2014

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An Obligatory Role of NF-κB in Mediating Bone Marrow Derived Endothelial Progenitor Cell Recruitment and Proliferation Following Endotoxemic Multiple Organ Injury in Mice

Sun-Zhong Mao, Xiaobing Ye, Gang Liu, Dongmei Song, Shu Fang Liu

published 21 Oct 2014

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Neurospora crassa Female Development Requires the PACC and Other Signal Transduction Pathways, Transcription Factors, Chromatin Remodeling, Cell-To-Cell Fusion, and Autophagy

Jennifer L. Chinnici, Ci Fu, Lauren M. Caccamise, Jason W. Arnold, Stephen J. Free

published 21 Oct 2014

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GPR55 Deletion in Mice Leads to Age-Related Ventricular Dysfunction and Impaired Adrenoceptor-Mediated Inotropic Responses

Sarah K. Walsh, Emma E. Hector, Anne-Christine Andréasson, Ann-Cathrine Jönsson-Rylander, Cherry L. Wainwright

published 02 Oct 2014

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Screening of Duchenne Muscular Dystrophy (DMD) Mutations and Investigating Its Mutational Mechanism in Chinese Patients

Chen Chen, Hongwei Ma, Feng Zhang, Lu Chen, Xuesha Xing, Shusen Wang, Xue Zhang, Yang Luo

published 22 Sep 2014

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First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria

Mohammad Zouheir Habbal, Tarek Bou-Assi, Jun Zhu, Renius Owen, Farid F. Chehab

published 18 Sep 2014

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Replicative Bypass of Abasic Site in Escherichia coli and Human Cells: Similarities and Differences

Savithri Weerasooriya, Vijay P. Jasti, Ashis K. Basu

published 16 Sep 2014

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New Insights into FAK Phosphorylation Based on a FAT Domain-Defective Mutation

Xuqian Fang, Xiangfan Liu, Ling Yao, Changqiang Chen, Jiafei Lin, Peihua Ni, Xinmin Zheng, Qishi Fan

published 16 Sep 2014

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