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Mutation detection

Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing

Soo Min Han, Byungjin Hwang, [ ... ], Sang-Hak Lee

Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss

Fei Liu, Jiongjiong Hu, [ ... ], Zhaoxin Ma

Extended RAS and BRAF Mutation Analysis Using Next-Generation Sequencing

Kazuko Sakai, Junji Tsurutani, [ ... ], Kazuto Nishio

Detection of K-ras Mutations in Predicting Efficacy of Epidermal Growth Factor Receptor Tyrosine Kinase (EGFR-TK) Inhibitor in Patients with Metastatic Colorectal Cancer

Ze Li, Xue-Wei Liu, [ ... ], Long-Wei Cheng

Characterization of LEF1 High Expression and Novel Mutations in Adult Acute Lymphoblastic Leukemia

Xing Guo, Run Zhang, [ ... ], Zheng Ge

Comparative Evaluation of Sloppy Molecular Beacon and Dual-Labeled Probe Melting Temperature Assays to Identify Mutations in Mycobacterium tuberculosis Resulting in Rifampin, Fluoroquinolone and Aminoglycoside Resistance

Sandy S. Roh, Laura E. Smith, [ ... ], Soumitesh Chakravorty

Performance Assessment of the BluePoint MycoID Plus Kit for Identification of Mycobacterium tuberculosis, Including Rifampin- and Isoniazid-resistant Isolates, and Nontuberculous Mycobacteria

Jung-Yien Chien, Tsung-Chain Chang, [ ... ], Po-Ren Hsueh

Identification of a Comprehensive Spectrum of Genetic Factors for Hereditary Breast Cancer in a Chinese Population by Next-Generation Sequencing

Xiaochen Yang, Jiong Wu, [ ... ], Zhen Hu

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism

Yun Wang, Zhi Wang, [ ... ], Xuyang Liu

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

Xue Gao, Yu Su, [ ... ], Pu Dai

Newly Exerted T Cell Pressures on Mutated Epitopes following Transmission Help Maintain Consensus HIV-1 Sequences

Emily M. Eriksson, Teri Liegler, [ ... ], Frederick M. Hecht

Modified Proofreading PCR for Detection of Point Mutations, Insertions and Deletions Using a ddNTP-Blocked Primer

Weiming Hao, Lujuan Fan, [ ... ], Chiyu Zhang

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

Daria C. Loconte, Valentina Grossi, [ ... ], Nicoletta Resta

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