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Mutation

Rapid Diagnosis of Drug Resistance to Fluoroquinolones, Amikacin, Capreomycin, Kanamycin and Ethambutol Using Genotype MTBDRsl Assay: A Meta-Analysis

Yan Feng, Sijun Liu, [ ... ], Wei Lu

Frequency and Prognostic Impact of CEBPA Proximal, Distal and Core Promoter Methylation in Normal Karyotype AML: A Study on 623 Cases

Annette Fasan, Tamara Alpermann, [ ... ], Susanne Schnittger

A Novel SCN9A Mutation Responsible for Primary Erythromelalgia and Is Resistant to the Treatment of Sodium Channel Blockers

Min-Tzu Wu, Po-Yuan Huang, [ ... ], Ming-Jen Lee

Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5

Nellie Y. Loh, Liz Bentley, [ ... ], Rajesh V. Thakker

A CRM1-Mediated Nuclear Export Signal Is Essential for Cytoplasmic Localization of Neurogenin 3 in Neurons

Julia Simon-Areces, Estefania Acaz-Fonseca, [ ... ], Maria-Angeles Arevalo

Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel

Hui Liu, Stéphanie Chatel, [ ... ], Patrice Bouvagnet

A Novel Trans Conformation of Ligand-Free Calmodulin

Veerendra Kumar, Vishnu Priyanka Reddy Chichili, Xuhua Tang, J. Sivaraman

The Roles of Helix I and Strand 5A in the Folding, Function and Misfolding of α₁-Antitrypsin

Anja S. Knaupp, Shani Keleher, [ ... ], Mary C. Pearce

A Telomerase Immortalized Human Proximal Tubule Cell Line with a Truncation Mutation (Q4004X) in Polycystin-1

Brittney-Shea Herbert, Brenda R. Grimes, [ ... ], Robert L. Bacallao

Analysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer

Ella R. Thompson, Simone M. Rowley, [ ... ], Ian G. Campbell

Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome

Jingyin Yue, Huimei Lu, [ ... ], Zhiyuan Shen

Only Missense Mutations Affecting the DNA Binding Domain of P53 Influence Outcomes in Patients with Breast Carcinoma

Frédérique Végran, Magali Rebucci, [ ... ], Sarab Lizard-Nacol

The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers

A. Hunter Shain, Jonathan R. Pollack

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