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

Hypo- and Hypermorphic FOXC1 Mutations in Dominant Glaucoma: Transactivation and Phenotypic Variability

Cristina Medina-Trillo, Francisco Sánchez-Sánchez, José-Daniel Aroca-Aguilar, Jesús-José Ferre-Fernández, Laura Morales, Carmen-Dora Méndez-Hernández, Fiona Blanco-Kelly, Carmen Ayuso, Julián García-Feijoo, Julio Escribano

published 18 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Insulin Growth Factor 1 Receptor Expression Is Associated with NOTCH1 Mutation, Trisomy 12 and Aggressive Clinical Course in Chronic Lymphocytic Leukaemia

Francesco Maura, Laura Mosca, Sonia Fabris, Giovanna Cutrona, Serena Matis, Marta Lionetti, Luca Agnelli, Marzia Barbieri, Marianna D’Anca, Martina Manzoni, Monica Colombo, Carlotta Massucco, Daniele Reverberi, Massimo Gentile, Anna Grazia Recchia, Sabrina Bossio, Fiorella Ilariucci, Caterina Musolino, Francesco Di Raimondo, Agostino Cortelezzi, Fortunato Morabito, Manlio Ferrarini, Antonino Neri

published 18 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

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.

A Deletion in FOXN1 Is Associated with a Syndrome Characterized by Congenital Hypotrichosis and Short Life Expectancy in Birman Cats

Marie Abitbol, Philippe Bossé, Anne Thomas, Laurent Tiret

published 17 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Crystal and EM Structures of Human Phosphoribosyl Pyrophosphate Synthase I (PRS1) Provide Novel Insights into the Disease-Associated Mutations

Peng Chen, Zheng Liu, Xuejuan Wang, Junhui Peng, Qianqian Sun, Jianzhong Li, Mingxing Wang, Liwen Niu, Zhiyong Zhang, Gang Cai, Maikun Teng, Xu Li

published 17 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Inositol Depletion Restores Vesicle Transport in Yeast Phospholipid Flippase Mutants

Kanako Yamagami, Takaharu Yamamoto, Shota Sakai, Tetsuo Mioka, Takamitsu Sano, Yasuyuki Igarashi, Kazuma Tanaka

published 17 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

High Frequency of Transmitted HIV-1 Gag HLA Class I-Driven Immune Escape Variants but Minimal Immune Selection over the First Year of Clade C Infection

Kamini Gounder, Nagavelli Padayachi, Jaclyn K. Mann, Mopo Radebe, Mammekwa Mokgoro, Mary van der Stok, Lungile Mkhize, Zenele Mncube, Manjeetha Jaggernath, Tarylee Reddy, Bruce D. Walker, Thumbi Ndung’u

published 17 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Evaluation of the Contribution of the EYA4 and GRHL2 Genes in Korean Patients with Autosomal Dominant Non-Syndromic Hearing Loss

Ye-Ri Kim, Min-A Kim, Borum Sagong, Seung-Hyun Bae, Hyo-Jeong Lee, Hyung-Jong Kim, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim

published 17 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Large Cohort Screening of G6PD Deficiency and the Mutational Spectrum in the Dongguan District in Southern China

Qi Peng, Siping Li, Keze Ma, Wenrui Li, Qiang Ma, Xiaoguang He, Yuejing He, Ting He, Xiaomei Lu

published 16 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

ER Quality Control Components UGGT and STT3a Are Required for Activation of Defense Responses in Bir1-1

Qian Zhang, Tongjun Sun, Yuelin Zhang

published 16 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Uric Acid and the Prediction Models of Tumor Lysis Syndrome in AML

A. Ahsan Ejaz, Negiin Pourafshar, Rajesh Mohandas, Bryan A. Smallwood, Richard J. Johnson, Jack W. Hsu

published 16 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Genome Editing Using TALENs in Blind Mexican Cavefish, Astyanax mexicanus

Li Ma, William R. Jeffery, Jeffrey J. Essner, Johanna E. Kowalko

published 16 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

IbeR Facilitates Stress-Resistance, Invasion and Pathogenicity of Avian Pathogenic Escherichia coli

Shaohui Wang, Yinli Bao, Qingmei Meng, Yongjie Xia, Yichao Zhao, Yang Wang, Fang Tang, Xiangkai ZhuGe, Shengqing Yu, Xiangan Han, Jianjun Dai, Chengping Lu

published 13 Mar 2015

Loading metrics information...

Metrics unavailable. Please check back later.

Advertisement

Create a weekly email alert for: Mutation

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