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Mutation detection

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

Stefania Zampieri, Silvia Cattarossi, [ ... ], Andrea Dardis

Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome

Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong

Development and Characterization of a New TILLING Population of Common Bread Wheat (Triticum aestivum L.)

Liang Chen, Linzhou Huang, [ ... ], Yin-Gang Hu

Clonal Analysis in Recurrent Astrocytic, Oligoastrocytic and Oligodendroglial Tumors Implicates IDH1- Mutation as Common Tumor Initiating Event

Ulrike Lass, Astrid Nümann, [ ... ], Wolf Mueller

Mitochondrial Genome Variations in Advanced Stage Endometriosis: A Study in South Indian Population

Suresh Govatati, Nageswara Rao Tipirisetti, [ ... ], S. Shivaji

Use of Multiplex Allele-Specific Polymerase Chain Reaction (MAS-PCR) to Detect Multidrug-Resistant Tuberculosis in Panama

Bing-Shao Chia, Fedora Lanzas, [ ... ], Petros C. Karakousis

HCV Genotypes Are Differently Prone to the Development of Resistance to Linear and Macrocyclic Protease Inhibitors

Valeria Cento, Carmen Mirabelli, [ ... ], Francesca Ceccherini-Silberstein

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

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