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Insertion mutation

Novel and Recurrent Mutations of WISP3 in Two Chinese Families with Progressive Pseudorheumatoid Dysplasia

Jing Sun, Weibo Xia, Shuli He, Zhen Zhao, Min Nie, Mei Li, Yan Jiang, Xiaoping Xing, Ou Wang, Xunwu Meng, Xueying Zhou

published 07 Jun 2012

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Human Peripheral Blood Antibodies with Long HCDR3s Are Established Primarily at Original Recombination Using a Limited Subset of Germline Genes

Bryan S. Briney, Jordan R. Willis, James E. Crowe Jr.

published 09 May 2012

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Analysis of Large Phenotypic Variability of EEC and SHFM4 Syndromes Caused by K193E Mutation of the TP63 Gene

Jianhua Wei, Yang Xue, Lian Wu, Jie Ma, Xiuli Yi, Junrui Zhang, Bin Lu, Chunying Li, Dashuang Shi, Songtao Shi, Xinghua Feng, Tao Cai

published 04 May 2012

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Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

Fernanda dos Santos Pereira, Ursula Matte, Clarissa Troller Habekost, Raphael Machado de Castilhos, Antonette Souto El Husny, Charles Marques Lourenço, Angela M. Vianna-Morgante, Liane Giuliani, Marcial Francis Galera, Rachel Honjo, Chong Ae Kim, Juan Politei, Carmen Regla Vargas, Laura Bannach Jardim

published 29 Mar 2012

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Evaluation of Genetic Mutations Associated with Mycobacterium tuberculosis Resistance to Amikacin, Kanamycin and Capreomycin: A Systematic Review

Sophia B. Georghiou, Marisa Magana, Richard S. Garfein, Donald G. Catanzaro, Antonino Catanzaro, Timothy C. Rodwell

published 29 Mar 2012

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Genetic Continuity in the Franco-Cantabrian Region: New Clues from Autochthonous Mitogenomes

Alberto Gómez-Carballa, Anna Olivieri, Doron M. Behar, Alessandro Achilli, Antonio Torroni, Antonio Salas

published 19 Mar 2012

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Reversal of the ΔdegP Phenotypes by a Novel rpoE Allele of Escherichia coli

Owen P. Leiser, Emily S. Charlson, Henri Gerken, Rajeev Misra

published 16 Mar 2012

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Detection of PIGO-Deficient Cells Using Proaerolysin: A Valuable Tool to Investigate Mechanisms of Mutagenesis in the DT40 Cell System

Jun Nakamura, Husamettin Gul, Xu Tian, Scott J. Bultman, James A. Swenberg

published 12 Mar 2012

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Glycerol Hypersensitivity in a Drosophila Model for Glycerol Kinase Deficiency Is Affected by Mutations in Eye Pigmentation Genes

Patrick J. Wightman, George R. Jackson, Katrina M. Dipple

published 09 Mar 2012

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A Highly Sensitive Quantitative Real-Time PCR Assay for Determination of Mutant JAK2 Exon 12 Allele Burden

Lasse Kjær, Maj Westman, Caroline Hasselbalch Riley, Estrid Høgdall, Ole Weis Bjerrum, Hans Hasselbalch

published 05 Mar 2012

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Copy Number Variations Due to Large Genomic Deletion in X-Linked Chronic Granulomatous Disease

Takashi Arai, Tsutomu Oh-ishi, Hideaki Yamamoto, Hiroyuki Nunoi, Junji Kamizono, Masahiko Uehara, Takeo Kubota, Takuya Sakurai, Takako Kizaki, Hideki Ohno

published 27 Feb 2012

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Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population

Katsuhiro Hosono, Chie Ishigami, Masayo Takahashi, Dong Ho Park, Yasuhiko Hirami, Hiroshi Nakanishi, Shinji Ueno, Tadashi Yokoi, Akiko Hikoya, Taichi Fujita, Yang Zhao, Sachiko Nishina, Jae Pil Shin, In Taek Kim, Shuichi Yamamoto, Noriyuki Azuma, Hiroko Terasaki, Miho Sato, Mineo Kondo, Shinsei Minoshima, Yoshihiro Hotta

published 17 Feb 2012

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Whole Genome Resequencing Reveals Natural Target Site Preferences of Transposable Elements in Drosophila melanogaster

Raquel S. Linheiro, Casey M. Bergman

published 09 Feb 2012

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