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Insertion mutation

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

Jing Sun, Weibo Xia, [ ... ], Xueying Zhou

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.

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

Jianhua Wei, Yang Xue, [ ... ], Tao Cai

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

Fernanda dos Santos Pereira, Ursula Matte, [ ... ], Laura Bannach Jardim

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

Sophia B. Georghiou, Marisa Magana, [ ... ], Timothy C. Rodwell

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

Alberto Gómez-Carballa, Anna Olivieri, [ ... ], Antonio Salas

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

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

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

Jun Nakamura, Husamettin Gul, [ ... ], James A. Swenberg

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

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

Lasse Kjær, Maj Westman, [ ... ], Hans Hasselbalch

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

Takashi Arai, Tsutomu Oh-ishi, [ ... ], Hideki Ohno

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

Katsuhiro Hosono, Chie Ishigami, [ ... ], Yoshihiro Hotta

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

Raquel S. Linheiro, Casey M. Bergman

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