Advertisement

Browse Subject Areas

?

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

For more information about PLOS Subject Areas, click here.

Missense mutation

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

Lucia Valentínová, Nicola L. Beer, [ ... ], Anna L. Gloyn

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

Joana Simões-Correia, Joana Figueiredo, [ ... ], Raquel Seruca

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

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

Hugh P. Morgan, Haydyn D. T. Mertens, [ ... ], Jonathan P. Hannan

Disease-Associated Mutations Prevent GPR56-Collagen III Interaction

Rong Luo, Zhaohui Jin, [ ... ], Xianhua Piao

Clinical and Functional Characterization of URAT1 Variants

Velibor Tasic, Ann Marie Hynes, [ ... ], John A. Sayer

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

Gurinder Gosal, Krys J. Kochut, Natarajan Kannan

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, [ ... ], Song-Yu Yang

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

Claudia Scotti, Carla Olivieri, [ ... ], Cesare Danesino

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

Bassam R. Ali, Imen Ben-Rebeh, [ ... ], Lihadh Al-Gazali

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

Wang Jian, Fan Ying-ying, [ ... ], Qiu Jian-hua

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

Olivier Le Saux, Krisztina Fülöp, [ ... ], András Váradi

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

Cheol-Sang Hwang, Maja Sukalo, [ ... ], Martin Zenker

Advertisement

Create a weekly email alert for: Missense mutation

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