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Mutation databases

FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst

Yoji Ogura, Shoji Yabuki, Aritoshi Iida, Ikuyo Kou, Masahiro Nakajima, Hiroki Kano, Masaaki Shiina, Shinichi Kikuchi, Yoshiaki Toyama, Kazuhiro Ogata, Masaya Nakamura, Morio Matsumoto, Shiro Ikegawa

published 22 Nov 2013

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Novel Mutations of ABCB6 Associated with Autosomal Dominant Dyschromatosis Universalis Hereditaria

Ying-Xia Cui, Xin-Yi Xia, Yang Zhou, Lin Gao, Xue-Jun Shang, Tong Ni, Wei-Ping Wang, Xiao-Buo Fan, Hong-Lin Yin, Shao-Jun Jiang, Bing Yao, Yu-An Hu, Gang Wang, Xiao-Jun Li

published 05 Nov 2013

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Comparison of Mutation Patterns in Full-Genome A/H3N2 Influenza Sequences Obtained Directly from Clinical Samples and the Same Samples after a Single MDCK Passage

Hong Kai Lee, Julian Wei-Tze Tang, Debra Han-Lin Kong, Tze Ping Loh, Donald Kok-Leong Chiang, Tommy Tsan-Yuk Lam, Evelyn Siew-Chuan Koay

published 01 Nov 2013

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The Influence of Angiotensin Converting Enzyme and Angiotensinogen Gene Polymorphisms on Hypertrophic Cardiomyopathy

Rong Luo, Xiaoping Li, Yuequn Wang, Yongqing Li, Yun Deng, Yongqi Wan, Zhigang Jiang, Wei Hua, Xiushan Wu

published 25 Oct 2013

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Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

Shuzhi Yang, Pu Dai, Xin Liu, Dongyang Kang, Xin Zhang, Weiyan Yang, Chengyong Zhou, Shiming Yang, Huijun Yuan

published 23 Oct 2013

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Frequency and Pattern of Heteroplasmy in the Complete Human Mitochondrial Genome

Amanda Ramos, Cristina Santos, Ligia Mateiu, Maria del Mar Gonzalez, Luis Alvarez, Luisa Azevedo, António Amorim, Maria Pilar Aluja

published 02 Oct 2013

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Prevalence of Dural Ectasia in Loeys-Dietz Syndrome: Comparison with Marfan Syndrome and Normal Controls

Atsushi K. Kono, Masahiro Higashi, Hiroko Morisaki, Takayuki Morisaki, Hiroaki Naito, Kazuro Sugimura

published 25 Sep 2013

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Accumulation of Protease Mutations among Patients Failing Second-Line Antiretroviral Therapy and Response to Salvage Therapy in Nigeria

Holly E. Rawizza, Beth Chaplin, Seema T. Meloni, Kristin M. Darin, Oluremi Olaitan, Kimberly K. Scarsi, Chika K. Onwuamah, Rosemary A. Audu, Philippe R. Chebu, Godwin E. Imade, Prosper Okonkwo, Phyllis J. Kanki

published 17 Sep 2013

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RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Dennis Lal, Eva M. Reinthaler, Janine Altmüller, Mohammad R. Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S. Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A. Neubauer

published 06 Sep 2013

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Hot Spots in a Network of Functional Sites

Pemra Ozbek, Seren Soner, Turkan Haliloglu

published 02 Sep 2013

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Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas

Feng Zhang, Jinlong Liang, Xiong Guo, Yingang Zhang, Yan Wen, Qiang Li, Zengtie Zhang, Weijuan Ma, Lanlan Dai, Xuanzhu Liu, Ling Yang, Jun Wang

published 29 Aug 2013

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A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

Ying Hu, I-Ping Chen, Salome de Almeida, Valdenize Tiziani, Cassio M. Raposo Do Amaral, Kalpana Gowrishankar, Maria Rita Passos-Bueno, Ernst J. Reichenberger

published 12 Aug 2013

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Mutationmapper: A Tool to Aid the Mapping of Protein Mutation Data

Shabana Vohra, Philip C. Biggin

published 09 Aug 2013

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