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Insertion mutation

Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

Stefania Zampieri, Ezio Bianchi, Carlo Cantile, Roberta Saleri, Bruno Bembi, Andrea Dardis

published 14 Nov 2014

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A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro

Guoyan Mo, Qin Ding, Zhongshan Chen, Yunbo Li, Ming Yan, Lijing Bu, Yanping Song, Guohua Yin

published 10 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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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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Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review

Bipin P. Kulkarni, Sona B. Nair, Manasi Vijapurkar, Leenam Mota, Sharda Shanbhag, Shehnaz Ali, Shrimati D. Shetty, Kanjaksha Ghosh

published 02 Oct 2014

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Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect on Hyperuricemia and Gout

Olha Hurba, Andrea Mancikova, Vladimir Krylov, Marketa Pavlikova, Karel Pavelka, Blanka Stibůrková

published 30 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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Wolfram Syndrome in the Japanese Population; Molecular Analysis of WFS1 Gene and Characterization of Clinical Features

Kimie Matsunaga, Katsuya Tanabe, Hiroshi Inoue, Shigeru Okuya, Yasuharu Ohta, Masaru Akiyama, Akihiko Taguchi, Yukari Kora, Naoko Okayama, Yuichiro Yamada, Yasuhiko Wada, Shin Amemiya, Shigetaka Sugihara, Yuzo Nakao, Yoshitomo Oka, Yukio Tanizawa

published 11 Sep 2014

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Prognostic Value Analysis of Mutational and Clinicopathological Factors in Non-Small Cell Lung Cancer

Chenguang Li, Ligang Hao, Yue Li, Shengguang Wang, Hui Chen, Lianmin Zhang, Bin Ke, Yuesong Yin, Haijin Suo, Bingsheng Sun, Bin Zhang, Changli Wang

published 08 Sep 2014

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Phenotypes of Campylobacter jejuni luxS Mutants Are Depending on Strain Background, Kind of Mutation and Experimental Conditions

Linda Adler, Thomas Alter, Soroush Sharbati, Greta Gölz

published 05 Aug 2014

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High Resolution Melting Analysis: A Rapid and Accurate Method to Detect CALR Mutations

Cristina Bilbao-Sieyro, Guillermo Santana, Melania Moreno, Laura Torres, Gonzalo Santana-Lopez, Carlos Rodriguez-Medina, María Perera, Beatriz Bellosillo, Silvia de la Iglesia, Teresa Molero, Maria Teresa Gomez-Casares

published 28 Jul 2014

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Assembly of the Type Two Secretion System in Aeromonas hydrophila Involves Direct Interaction between the Periplasmic Domains of the Assembly Factor ExeB and the Secretin ExeD

Elizabeth M. Vanderlinde, Su Zhong, Gang Li, Dariusz Martynowski, Pawel Grochulski, S. Peter Howard

published 15 Jul 2014

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Protein Variants Form a System of Networks: Microdiversity of IMP Metallo-Beta-Lactamases

Michael Widmann, Jürgen Pleiss

published 11 Jul 2014

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