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

Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease

Susanne Pitz, Gisela Kalkum, Laila Arash, Nesrin Karabul, Andrea Sodi, Sylvain Larroque, Michael Beck, Andreas Gal

published 17 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

Tejasvi S. Niranjan, Cindy Skinner, Melanie May, Tychele Turner, Rebecca Rose, Roger Stevenson, Charles E. Schwartz, Tao Wang

published 13 Feb 2015

Loading metrics information...

Metrics unavailable. Please check back later.

High Prevalence of the K65R Mutation in HIV-1 Subtype C Infected Patients Failing Tenofovir-Based First-Line Regimens in South Africa

Lindiwe Skhosana, Kim Steegen, Michelle Bronze, Azwidowi Lukhwareni, Esrom Letsoalo, Maria A. Papathanasopoulos, Sergio C. Carmona, Wendy S. Stevens

published 06 Feb 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

Charlotte Mouden, Marie de Tayrac, Christèle Dubourg, Sophie Rose, Wilfrid Carré, Houda Hamdi-Rozé, Marie-Claude Babron, Linda Akloul, Bénédicte Héron-Longe, Sylvie Odent, Valérie Dupé, Régis Giet, Véronique David

published 06 Feb 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Glucocerebrosidase Gene Mutations Associated with Parkinson's Disease: A Meta-Analysis in a Chinese population

Jia Chen, Wei Li, Tao Zhang, Yan-jiang Wang, Xiao-jiang Jiang, Zhi-qiang Xu

published 23 Dec 2014

Loading metrics information...

Metrics unavailable. Please check back later.

Profiling of Exome Mutations Associated with Progression of HBV-Related Hepatocellular Carcinoma

Hyun Goo Woo, Soon Sun Kim, Hyunwoo Cho, So Mee Kwon, Hyo Jung Cho, Seun Joo Ahn, Eun Sung Park, Ju-Seog Lee, Sung Won Cho, Jae Youn Cheong

published 18 Dec 2014

Loading metrics information...

Metrics unavailable. Please check back later.

Mini Profile of Potential Anticancer Properties of Propofol

Jing Song, Yenji Shen, Jing Zhang, Qingquan Lian

published 11 Dec 2014

Loading metrics information...

Metrics unavailable. Please check back later.

A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias

Saima Siddiqi, Jia Nee Foo, Anthony Vu, Saad Azim, David L. Silver, Atika Mansoor, Stacey Kiat Hong Tay, Sumiya Abbasi, Asraf Hussain Hashmi, Jamal Janjua, Sumbal Khalid, E. Shyong Tai, Gene W. Yeo, Chiea Chuen Khor

published 04 Dec 2014

Loading metrics information...

Metrics unavailable. Please check back later.

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

Loading metrics information...

Metrics unavailable. Please check back later.

Whole-Genome Sequencing of the World’s Oldest People

Hinco J. Gierman, Kristen Fortney, Jared C. Roach, Natalie S. Coles, Hong Li, Gustavo Glusman, Glenn J. Markov, Justin D. Smith, Leroy Hood, L. Stephen Coles, Stuart K. Kim

published 12 Nov 2014

Loading metrics information...

Metrics unavailable. Please check back later.

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

Loading metrics information...

Metrics unavailable. Please check back later.

Exome Sequencing Is an Efficient Tool for Variant Late-Infantile Neuronal Ceroid Lipofuscinosis Molecular Diagnosis

Liliana Catherine Patiño, Rajani Battu, Oscar Ortega-Recalde, Jeyabalan Nallathambi, Venkata Ramana Anandula, Umashankar Renukaradhya, Paul Laissue

published 15 Oct 2014

Loading metrics information...

Metrics unavailable. Please check back later.

Development and Customization of a Color-Coded Microbeads-Based Assay for Drug Resistance in HIV-1 Reverse Transcriptase

Lijun Gu, Ai Kawana-Tachikawa, Teiichiro Shiino, Hitomi Nakamura, Michiko Koga, Tadashi Kikuchi, Eisuke Adachi, Tomohiko Koibuchi, Takaomi Ishida, George F. Gao, Masaki Matsushita, Wataru Sugiura, Aikichi Iwamoto, Noriaki Hosoya

published 14 Oct 2014

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"