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Insertion mutation

Methylation State of the EDA Gene Promoter in Chinese X-Linked Hypohidrotic Ectodermal Dysplasia Carriers

Wei Yin, Xiaoqian Ye, Huali Fan, Zhuan Bian

Gastrointestinal Stromal Tumors, Somatic Mutations and Candidate Genetic Risk Variants

Katie M. O'Brien, Irene Orlow, [ ... ], Lawrence S. Engel

A Novel Splice-Site Mutation in Angiotensin I-Converting Enzyme (ACE) Gene, c.3691+1G>A (IVS25+1G>A), Causes a Dramatic Increase in Circulating ACE through Deletion of the Transmembrane Anchor

Alexandre Persu, Michel Lambert, [ ... ], Jean-Luc Gala

Prevalence of Pathological Germline Mutations of hMLH1 and hMSH2 Genes in Colorectal Cancer

Dandan Li, Fulan Hu, [ ... ], Yashuang Zhao

Orientations and Proximities of the Extracellular Ends of Transmembrane Helices S0 and S4 in Open and Closed BK Potassium Channels

Xiaowei Niu, Guoxia Liu, [ ... ], Steven O. Marx

Efficient Methods for Targeted Mutagenesis in Zebrafish Using Zinc-Finger Nucleases: Data from Targeting of Nine Genes Using CompoZr or CoDA ZFNs

Raman Sood, Blake Carrington, [ ... ], Paul Liu

Identification of Shigella flexneri IcsA Residues Affecting Interaction with N-WASP, and Evidence for IcsA-IcsA Co-Operative Interaction

Min Yan Teh, Renato Morona

HeurAA: Accurate and Fast Detection of Genetic Variations with a Novel Heuristic Amplicon Aligner Program for Next Generation Sequencing

Lőrinc S. Pongor, Ferenc Pintér, István Peták

Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease

Raquel María Fernández, Yves Mathieu, [ ... ], Salud Borrego

Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

C. Alexander Valencia, Arunkanth Ankala, [ ... ], Madhuri Hegde

Mutation Scanning Using MUT-MAP, a High-Throughput, Microfluidic Chip-Based, Multi-Analyte Panel

Rajesh Patel, Alison Tsan, [ ... ], Rajiv Raja

Multiple Mechanisms Contribute to Leakiness of a Frameshift Mutation in Canine Cone-Rod Dystrophy

Keiko Miyadera, Ian Brierley, [ ... ], David R. Sargan

A Knock-In Npm1 Mutation in Mice Results in Myeloproliferation and Implies a Perturbation in Hematopoietic Microenvironment

Shiu-Huey Chou, Bor-Sheng Ko, [ ... ], Hwei-Fang Tien

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