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Mutational analysis

Crystal structure of chloramphenicol-metabolizing enzyme EstDL136 from a metagenome

Sang-Hoon Kim, Pyeoung-Ann Kang, Keetae Han, Seon-Woo Lee, Sangkee Rhee

published 15 Jan 2019

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Identification of the novel deletion-type PML-RARA mutation associated with the retinoic acid resistance in acute promyelocytic leukemia

Hikaru Hattori, Yuichi Ishikawa, Naomi Kawashima, Akimi Akashi, Yohei Yamaguchi, Yasuhiko Harada, Daiki Hirano, Yoshiya Adachi, Kotaro Miyao, Yoko Ushijima, Seitaro Terakura, Tetsuya Nishida, Tadashi Matsushita, Hitoshi Kiyoi

published 05 Oct 2018

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Utility of including BRAF mutation analysis with ultrasonographic and cytological diagnoses in ultrasonography-guided fine-needle aspiration of thyroid nodules

Da Som Kim, Dong Wook Kim, Young Jin Heo, Jin Wook Baek, Yoo Jin Lee, Hye Jung Choo, Young Mi Park, Ha Kyoung Park, Tae Kwun Ha, Do Hun Kim, Soo Jin Jung, Ji Sun Park, Ki Jung Ahn, Hye Jin Baek, Taewoo Kang

published 17 Aug 2018

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Development of ultra-short PCR assay to reveal BRAF V600 mutation status in Thai colorectal cancer tissues

Nunthawut Chat-Uthai, Pichpisith Vejvisithsakul, Sutthirat Udommethaporn, Puttarakun Meesiri, Chetiya Danthanawanit, Yannawan Wongchai, Chinachote Teerapakpinyo, Shanop Shuangshoti, Naravat Poungvarin

published 07 Jun 2018

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K-ras mutation analysis of residual liquid-based cytology specimens from endoscopic ultrasound-guided fine needle aspiration improves cell block diagnosis of pancreatic ductal adenocarcinoma

Yoko Sekita-Hatakeyama, Takeshi Nishikawa, Mao Takeuchi, Kouhei Morita, Maiko Takeda, Kinta Hatakeyama, Tokiko Nakai, Tomoko Uchiyama, Hiroe Itami, Tomomi Fujii, Akira Mitoro, Masayuki Sho, Chiho Ohbayashi

published 01 Mar 2018

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Impact of annotation error in α-globin genes on molecular diagnosis

J. Francis Borgio

published 19 Oct 2017

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Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype

Shoko Onodera, Akiko Saito, Daigo Hasegawa, Nana Morita, Katsuhito Watanabe, Takeshi Nomura, Takahiko Shibahara, Shinsuke Ohba, Akira Yamaguchi, Toshifumi Azuma

published 15 Sep 2017

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IGF1 and IGF2 specificities to the two insulin receptor isoforms are determined by insulin receptor amino acid 718

Mie Andersen, Dorte Nørgaard-Pedersen, Jakob Brandt, Ingrid Pettersson, Rita Slaaby

published 01 Jun 2017

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Characterization and mutational analysis of a nicotinamide mononucleotide deamidase from Agrobacterium tumefaciens showing high thermal stability and catalytic efficiency

Ana Belén Martínez-Moñino, Rubén Zapata-Pérez, Antonio Ginés García-Saura, Fernando Gil-Ortiz, Manuela Pérez-Gilabert, Álvaro Sánchez-Ferrer

published 07 Apr 2017

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Digital PCR Improves Mutation Analysis in Pancreas Fine Needle Aspiration Biopsy Specimens

Shonan Sho, Colin M. Court, Stephen Kim, David R. Braxton, Shuang Hou, V. Raman Muthusamy, Rabindra R. Watson, Alireza Sedarat, Hsian-Rong Tseng, James S. Tomlinson

published 26 Jan 2017

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Detailed Analysis of the Binding Mode of Vanilloids to Transient Receptor Potential Vanilloid Type I (TRPV1) by a Mutational and Computational Study

Katsuya Ohbuchi, Yoshikazu Mori, Kazuo Ogawa, Eiji Warabi, Masahiro Yamamoto, Takatsugu Hirokawa

published 08 Sep 2016

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One-Tube-Only Standardized Site-Directed Mutagenesis: An Alternative Approach to Generate Amino Acid Substitution Collections

Janire Mingo, Asier Erramuzpe, Sandra Luna, Olaia Aurtenetxe, Laura Amo, Ibai Diez, Jan T. G. Schepens, Wiljan J. A. J. Hendriks, Jesús M. Cortés, Rafael Pulido

published 22 Aug 2016

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Precise Detection of IDH1/2 and BRAF Hotspot Mutations in Clinical Glioma Tissues by a Differential Calculus Analysis of High-Resolution Melting Data

Ryusuke Hatae, Nobuhiro Hata, Koji Yoshimoto, Daisuke Kuga, Yojiro Akagi, Hideki Murata, Satoshi O. Suzuki, Masahiro Mizoguchi, Koji Iihara

published 16 Aug 2016

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