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Missense mutation

Identification and Functional Characterisation of Novel Glucokinase Mutations Causing Maturity-Onset Diabetes of the Young in Slovakia

Lucia Valentínová, Nicola L. Beer, Juraj Staník, Nicholas D. Tribble, Martijn van de Bunt, Miroslava Hučková, Amy Barrett, Iwar Klimeš, Daniela Gašperíková, Anna L. Gloyn

published 06 Apr 2012

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E-Cadherin Destabilization Accounts for the Pathogenicity of Missense Mutations in Hereditary Diffuse Gastric Cancer

Joana Simões-Correia, Joana Figueiredo, Rui Lopes, François Stricher, Carla Oliveira, Luis Serrano, Raquel Seruca

published 21 Mar 2012

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Frequent Heterogeneous Missense Mutations of GGAP2 in Prostate Cancer: Implications for Tumor Biology, Clonality and Mutation Analysis

Yi Cai, Jianghua Wang, Chengxi Ren, Michael Ittmann

published 28 Feb 2012

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Structural Analysis of the C-Terminal Region (Modules 18–20) of Complement Regulator Factor H (FH)

Hugh P. Morgan, Haydyn D. T. Mertens, Mara Guariento, Christoph Q. Schmidt, Dinesh C. Soares, Dmitri I. Svergun, Andrew P. Herbert, Paul N. Barlow, Jonathan P. Hannan

published 28 Feb 2012

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Disease-Associated Mutations Prevent GPR56-Collagen III Interaction

Rong Luo, Zhaohui Jin, Yiyu Deng, Natalie Strokes, Xianhua Piao

published 04 Jan 2012

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Clinical and Functional Characterization of URAT1 Variants

Velibor Tasic, Ann Marie Hynes, Kenichiro Kitamura, Hae Il Cheong, Vladimir J. Lozanovski, Zoran Gucev, Promsuk Jutabha, Naohiko Anzai, John A. Sayer

published 16 Dec 2011

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ProKinO: An Ontology for Integrative Analysis of Protein Kinases in Cancer

Gurinder Gosal, Krys J. Kochut, Natarajan Kannan

published 14 Dec 2011

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A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability

Laurie H. Seaver, Xue-Ying He, Keith Abe, Tina Cowan, Gregory M. Enns, Lawrence Sweetman, Manfred Philipp, Sansan Lee, Mazhar Malik, Song-Yu Yang

published 22 Nov 2011

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Bioinformatic Analysis of Pathogenic Missense Mutations of Activin Receptor Like Kinase 1 Ectodomain

Claudia Scotti, Carla Olivieri, Laura Boeri, Cecilia Canzonieri, Federica Ornati, Elisabetta Buscarini, Fabio Pagella, Cesare Danesino

published 18 Oct 2011

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Endoplasmic Reticulum Quality Control Is Involved in the Mechanism of Endoglin-Mediated Hereditary Haemorrhagic Telangiectasia

Bassam R. Ali, Imen Ben-Rebeh, Anne John, Nadia A. Akawi, Reham M. Milhem, Nouf A. Al-Shehhi, Mouza M. Al-Ameri, Shamma A. Al-Shamisi, Lihadh Al-Gazali

published 14 Oct 2011

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Variants of OTOF and PJVK Genes in Chinese Patients with Auditory Neuropathy Spectrum Disorder

Wang Jian, Fan Ying-ying, Wang Shu-juan, Liang Peng-Fei, Wang Jin-ling, Qiu Jian-hua

published 15 Sep 2011

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Expression and In Vivo Rescue of Human ABCC6 Disease-Causing Mutants in Mouse Liver

Olivier Le Saux, Krisztina Fülöp, Yukiko Yamaguchi, Attila Iliás, Zalán Szabó, Christopher N. Brampton, Viola Pomozi, Krisztina Huszár, Tamás Arányi, András Váradi

published 14 Sep 2011

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Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

Cheol-Sang Hwang, Maja Sukalo, Olga Batygin, Marie-Claude Addor, Han Brunner, Antonio Perez Aytes, Julia Mayerle, Hyun Kyu Song, Alexander Varshavsky, Martin Zenker

published 13 Sep 2011

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