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Point mutation

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva, [ ... ], Ana María Oller de Ramírez

Specificity and Versatility of Substrate Binding Sites in Four Catalytic Domains of Human N-Terminal Acetyltransferases

Cédric Grauffel, Angèle Abboud, [ ... ], Nathalie Reuter

High-Throughput Mutation Profiling of Primary and Metastatic Endometrial Cancers Identifies KRAS, FGFR2 and PIK3CA to Be Frequently Mutated

Camilla Krakstad, Even Birkeland, [ ... ], Helga Salvesen

Cataracts and Microphthalmia Caused by a Gja8 Mutation in Extracellular Loop 2

Chun-hong Xia, Bo Chang, [ ... ], Xiaohua Gong

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Kerstin Knies, Beatrice Schuster, [ ... ], Detlev Schindler

A Mouse Model for Osseous Heteroplasia

Michael T. Cheeseman, Kate Vowell, [ ... ], Jo Peters

Non-Random mtDNA Segregation Patterns Indicate a Metastable Heteroplasmic Segregation Unit in m.3243A>G Cybrid Cells

Anton K. Raap, Roshan S. Jahangir Tafrechi, [ ... ], George M. C. Janssen

Whole Genome Characterization, Phylogenetic and Genome Signature Analysis of Human Pandemic H1N1 Virus in Thailand, 2009–2012

Jarika Makkoch, Kamol Suwannakarn, [ ... ], Yong Poovorawan

Non-Invasive Prenatal Diagnosis of Multiple Endocrine Neoplasia Type 2A Using COLD-PCR Combined with HRM Genotyping Analysis from Maternal Serum

Hada C. Macher, Maria A. Martinez-Broca, [ ... ], Juan M. Guerrero

Mutations of the EPHB6 Receptor Tyrosine Kinase Induce a Pro-Metastatic Phenotype in Non-Small Cell Lung Cancer

Etmar Bulk, Jun Yu, [ ... ], Carsten Müller-Tidow

Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) Are Two New Mutations of Lmx1a Causing Severe Cochlear and Vestibular Defects

Georg Steffes, Beatriz Lorente-Cánovas, [ ... ], Karen P. Steel

Identification and Characterisation of the RalA-ERp57 Interaction: Evidence for GDI Activity of ERp57

Adam Brymora, Iain G. Duggin, [ ... ], Phillip J. Robinson

A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis

Jianning Tao, Maranke I. Koster, [ ... ], Paul A. Overbeek

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