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Mutation detection

Differential In Vitro Kinetics of Drug Resistance Mutation Acquisition in HIV-1 RT of Subtypes B and C

Rodrigo D. Cunha, Celina M. Abreu, [ ... ], Amilcar Tanuri

Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism

Masaki Takagi, Tomohiro Ishii, [ ... ], Tomonobu Hasegawa

Novel HRPT2/CDC73 Gene Mutations and Loss of Expression of Parafibromin in Chinese Patients with Clinically Sporadic Parathyroid Carcinomas

Ou Wang, Chunyan Wang, [ ... ], Xiaoping Xing

U2AF1 Mutations in Chinese Patients with Acute Myeloid Leukemia and Myelodysplastic Syndrome

Jun Qian, Dong-ming Yao, [ ... ], Xing-xing Chen

A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

Tiecheng Liu, Xin Jin, [ ... ], Weifeng Wang

Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants

Marga Sturm, Diran Herebian, [ ... ], Ute Spiekerkoetter

Identification of Drug Resistant Mutations in HIV-1 CRF07_BC Variants Selected by Nevirapine In Vitro

Hao Wu, Hao-Jie Zhang, [ ... ], Bo-Jian Zheng

Identification of BRCA1/2 Founder Mutations in Southern Chinese Breast Cancer Patients Using Gene Sequencing and High Resolution DNA Melting Analysis

Ava Kwong, Enders Kai On Ng, [ ... ], Edmond Siu Kwan Ma

Prevalence of c-KIT Mutations in Gonadoblastoma and Dysgerminomas of Patients with Disorders of Sex Development (DSD) and Ovarian Dysgerminomas

Remko Hersmus, Hans Stoop, [ ... ], Leendert H. J. Looijenga

A Comparison of EGFR Mutation Testing Methods in Lung Carcinoma: Direct Sequencing, Real-time PCR and Immunohistochemistry

Bárbara Angulo, Esther Conde, [ ... ], Fernando López-Ríos

Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol

Ian Tietjen, G. Kees Hovingh, [ ... ], Michael R. Hayden

I223R Mutation in Influenza A(H1N1)pdm09 Neuraminidase Confers Reduced Susceptibility to Oseltamivir and Zanamivir and Enhanced Resistance with H275Y

Jérome LeGoff, Dominique Rousset, [ ... ], Sylvie van der Werf

Combined Species Identification, Genotyping, and Drug Resistance Detection of Mycobacterium tuberculosis Cultures by MLPA on a Bead-Based Array

Indra Bergval, Sarah Sengstake, [ ... ], Richard Anthony

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