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Mutation detection

Functional Analysis of a Dominant Negative Mutation of Interferon Regulatory Factor 5

Long Yang, Tiejun Zhao, [ ... ], Rongtuan Lin

Novel Mutations in ACVR1 Result in Atypical Features in Two Fibrodysplasia Ossificans Progressiva Patients

Kirsten A. Petrie, Wen Hwa Lee, [ ... ], James T. Triffitt

High-Throughput Detection of Induced Mutations and Natural Variation Using KeyPoint™ Technology

Diana Rigola, Jan van Oeveren, [ ... ], Michiel J. T. van Eijk

Toll-Like Receptor 4 (TLR4) and Typhoid Fever in Vietnam

Nguyen Thi Hue, Mai Ngoc Lanh, [ ... ], Sarah J. Dunstan

Drug Resistance Mutations for Surveillance of Transmitted HIV-1 Drug-Resistance: 2009 Update

Diane E. Bennett, Ricardo J. Camacho, [ ... ], Robert W. Shafer

Comparing Platforms for C. elegans Mutant Identification Using High-Throughput Whole-Genome Sequencing

Yufeng Shen, Sumeet Sarin, [ ... ], Itsik Pe'er

p16 Mutation Spectrum in the Premalignant Condition Barrett's Esophagus

Thomas G. Paulson, Patricia C. Galipeau, [ ... ], Brian J. Reid

Detecting Clusters of Mutations

Tong Zhou, Peter J. Enyeart, Claus O. Wilke

Exon Expression Arrays as a Tool to Identify New Cancer Genes

Mieke Schutte, Fons Elstrodt, [ ... ], Pim J. French

Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A)

Shufeng Li, Jiahuang Li, [ ... ], Zi-Chun Hua

Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP

Sigrun Roeber, Eva-Maria Grasbon-Frodl, [ ... ], Hans A. Kretzschmar

High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency

Silvia Parajes, Celsa Quinteiro, Fernando Domínguez, Lourdes Loidi

BRCA1 and BRCA2 Germline Mutations in Malaysian Women with Early-Onset Breast Cancer without a Family History

Gaik Theng Toh, Peter Kang, [ ... ], Soo-Hwang Teo

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