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Mutation detection

Copy Number Analysis of Complement C4A, C4B and C4A Silencing Mutation by Real-Time Quantitative Polymerase Chain Reaction

Riitta Paakkanen, Hanna Vauhkonen, [ ... ], Marja-Liisa Lokki

Glucokinase (GCK) Mutations and Their Characterization in MODY2 Children of Southern Italy

Marina Capuano, Carmen Maria Garcia-Herrero, [ ... ], Lucia Sacchetti

Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India

Mehul Mistri, Parag M. Tamhankar, [ ... ], Jayesh Sheth

High-Throughput Mutation Profiling Identifies Frequent Somatic Mutations in Advanced Gastric Adenocarcinoma

Jeeyun Lee, Paul van Hummelen, [ ... ], Kyoung-Mee Kim

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

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

Congenital Hypogonadotropic Hypogonadism Due to GNRH Receptor Mutations in Three Brothers Reveal Sites Affecting Conformation and Coupling

Javier A. Tello, Claire L. Newton, [ ... ], Jacques Young

High Accuracy Mutation Detection in Leukemia on a Selected Panel of Cancer Genes

Zeynep Kalender Atak, Kim De Keersmaecker, [ ... ], Stein Aerts

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

Eva Müller, Desiree Dunstheimer, [ ... ], Peter H. Heidemann

BRCA2 Mutations and Triple-Negative Breast Cancer

Peter Meyer, Katharina Landgraf, [ ... ], Beyhan Ataseven

Improved Somatic Mutagenesis in Zebrafish Using Transcription Activator-Like Effector Nucleases (TALENs)

Finola E. Moore, Deepak Reyon, [ ... ], David M. Langenau

A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

Masaki Takagi, Tomohiro Ishii, [ ... ], Tomonobu Hasegawa

KRAS, BRAF and PIK3CA Mutations and the Loss of PTEN Expression in Chinese Patients with Colorectal Cancer

Chen Mao, Junhua Zhou, [ ... ], Qing Chen

Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers

Kai Hang Yiu, Douwe E. Atsma, [ ... ], Nina Ajmone Marsan

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