Advertisement

Browse Subject Areas

?

Click through the PLOS taxonomy to find articles in your field.

For more information about PLOS Subject Areas, click here.

Mutation databases

Identification of Sequence Variants in Genetic Disease-Causing Genes Using Targeted Next-Generation Sequencing

Xiaoming Wei, Xiangchun Ju, Xin Yi, Qian Zhu, Ning Qu, Tengfei Liu, Yang Chen, Hui Jiang, Guanghui Yang, Ruan Zhen, Zhangzhang Lan, Ming Qi, Jinming Wang, Yi Yang, Yuxing Chu, Xiaoyan Li, Yanfang Guang, Jian Huang

published 21 Dec 2011

Loading metrics information...

Metrics unavailable. Please check back later.

The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

Kon-Ping Lin, Bing-Wen Soong, Chih-Chao Yang, Li-Wen Huang, Ming-Hong Chang, I-Hui Lee, Antony Antonellis, Yi-Chung Lee

published 19 Dec 2011

Loading metrics information...

Metrics unavailable. Please check back later.

Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects

Maximilian G. Posch, Stephan Waldmuller, Melanie Müller, Thomas Scheffold, David Fournier, Miguel A. Andrade-Navarro, Bernard De Geeter, Sophie Guillaumont, Claire Dauphin, Dany Yousseff, Katharina R. Schmitt, Andreas Perrot, Felix Berger, Roland Hetzer, Patrice Bouvagnet, Cemil Özcelik

published 14 Dec 2011

Loading metrics information...

Metrics unavailable. Please check back later.

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

Gurinder Gosal, Krys J. Kochut, Natarajan Kannan

published 14 Dec 2011

Loading metrics information...

Metrics unavailable. Please check back later.

Can Linear Regression Modeling Help Clinicians in the Interpretation of Genotypic Resistance Data? An Application to Derive a Lopinavir-Score

Alessandro Cozzi-Lepri, Mattia C. F. Prosperi, Jesper Kjær, David Dunn, Roger Paredes, Caroline A. Sabin, Jens D. Lundgren, Andrew N. Phillips, Deenan Pillay, for the EuroSIDA and the United Kingdom CHIC/United Kingdom HDRD Studies

published 16 Nov 2011

Loading metrics information...

Metrics unavailable. Please check back later.

Rapid Colorimetric Testing for Pyrazinamide Susceptibility of M. tuberculosis by a PCR-Based In-Vitro Synthesized Pyrazinamidase Method

Man Zhou, Xuelei Geng, Jun Chen, Xude Wang, Dianbing Wang, Jiaoyu Deng, Zhiping Zhang, Weihua Wang, Xian-En Zhang, Hongping Wei

published 10 Nov 2011

Loading metrics information...

Metrics unavailable. Please check back later.

Ethanol and Reactive Species Increase Basal Sequence Heterogeneity of Hepatitis C Virus and Produce Variants with Reduced Susceptibility to Antivirals

Scott Seronello, Jessica Montanez, Kristen Presleigh, Miriam Barlow, Seung Bum Park, Jinah Choi

published 08 Nov 2011

Loading metrics information...

Metrics unavailable. Please check back later.

Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis

Bruno A. Benitez, David Alvarado, Yefei Cai, Kevin Mayo, Sumitra Chakraverty, Joanne Norton, John C. Morris, Mark S. Sands, Alison Goate, Carlos Cruchaga

published 04 Nov 2011

Loading metrics information...

Metrics unavailable. Please check back later.

Segtor: Rapid Annotation of Genomic Coordinates and Single Nucleotide Variations Using Segment Trees

Gabriel Renaud, Pedro Neves, Edson Luiz Folador, Carlos Gil Ferreira, Fabio Passetti

published 01 Nov 2011

Loading metrics information...

Metrics unavailable. Please check back later.

In Silico Analysis of Single Nucleotide Polymorphism (SNPs) in Human β-Globin Gene

Mohammed Alanazi, Zainularifeen Abduljaleel, Wajahatullah Khan, Arjumand S. Warsy, Mohamed Elrobh, Zahid Khan, Abdullah Al Amri, Mohammad D. Bazzi

published 20 Oct 2011

Loading metrics information...

Metrics unavailable. Please check back later.

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

Loading metrics information...

Metrics unavailable. Please check back later.

Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

Neeraj Kumar, Krishna Kant Taneja, Veena Kalra, Madhuri Behari, Satinder Aneja, Surendra Kumar Bansal

published 22 Sep 2011

Loading metrics information...

Metrics unavailable. Please check back later.

TGFBR2 and BAX Mononucleotide Tract Mutations, Microsatellite Instability, and Prognosis in 1072 Colorectal Cancers

Kaori Shima, Teppei Morikawa, Mai Yamauchi, Aya Kuchiba, Yu Imamura, Xiaoyun Liao, Jeffrey A. Meyerhardt, Charles S. Fuchs, Shuji Ogino

published 20 Sep 2011

Loading metrics information...

Metrics unavailable. Please check back later.

Advertisement

Create a weekly email alert for: Mutation databases

You can change these options by clicking profile then "Alerts and Notifications"