The Mutation p.Ser298Pro in the Sulphamidase Gene (SGSH) is Associated with a Slowly Progressive Clinical Phenotype in Mucopolysaccharidosis Type IIIA (Sanfilippo A Syndrome)
A Novel Mutation in AlphaA-crystallin (CRYAA) Caused Autosomal Dominant Congenital Cataract in a Large Chinese Family
SORL1 Is Genetically Associated with Increased Risk for Late-onset Alzheimer Disease in the Belgian Population
Homozygous Mutation of the PHOX2B Gene in Congenital Central Hypoventilation Syndrome (Ondine's Curse)
Gaucher Disease: Mutation and Polymorphism Spectrum in the Glucocerebrosidase Gene ( GBA )
MID1 Mutations in Patients With X-linked Opitz G/BBB Syndrome
Alterations of the IKBKG Locus and Diseases: An Update and a Report of 13 Novel Mutations
The Human Retinitis Pigmentosa GTPase Regulator Gene Variant Database
Frequent Mutations in the Neurotrophic Tyrosine Receptor Kinase Gene Family in Large Cell Neuroendocrine Carcinoma of the Lung
Frequent BR G1/SMARCA4 - Inactivating Mutations in Human Lung Cancer Cell Lines
CYBB, an NADPH-Oxidase Gene: Restricted Diversity in Humans and Evidence for Differential Long-Term Purifying Selection on Transmembrane and Cytosolic Domains
In Vitro Functional Studies of Naturally Occurring Pathogenic PRKAR1A Mutations That Are Not Subject to Nonsense mRNA Decay
A Human Phospholamban Promoter Polymorphism in Dilated Cardiomyopathy Alters Transcriptional Regulation by Glucocorticoids
A Panel of Ancestry Informative Markers for Estimating Individual Biogeographical Ancestry and Admixture From Four Continents: Utility and Applications
6-Mercaptopurine and 9-(2-Phosphonyl- Methoxyethyl) Adenine (PMEA) Transport Altered by Two Missense Mutations in the Drug Transporter Gene ABCC4
Null Mutations Causing Depletion of the Type 1 Ryanodine Receptor (RYR1) Are Commonly Associated With Recessive Structural Congenital Myopathies With Cores
Novel and Established CYP2A6 Alleles Impair In Vivo Nicotine Metabolism in a Population of Black African Descent
K45R Variant of Squalene Synthase Increases Total Cholesterol Levels in Two Study Samples From a French Canadian Population
RET Gly691 Ser Mutation Is Associated With Primary Vesicoureteral Reflux in the French-Canadian Population From Quebec
Integration of Hepatitis B Virus DNA Into the Myeloid/Lymphoid or Mixed-Lineage Leukemia (MLL4) Gene and Rearrangements of MLL4 in Human Hepatocellular Carcinoma
Novel CCM1, CCM2, and CCM3 Mutations in Patients With Cerebral Cavernous Malformations: In-Frame Deletion in CCM2 Prevents Formation of a CCM1/CCM2/CCM3 Protein Complex
Thermal Instability of Compound Variants of Carnitine Palmitoyltransferase II and Impaired Mitochondrial Fuel Utilization in Influenza-Associated Encephalopathy
Integrated DNA, cDNA, and Protein Studies in Becker Muscular Dystrophy Show High Exception to the Reading Frame Rule
N-Terminal CFTR Missense Variants Severely Affect the Behavior of the CFTR Chloride Channel
Validation of the Performance of a Comprehensive Genotyping Assay Panel of Single Nucleotide Polymorphisms in Drug Metabolism Enzyme Genes
High-Throughput Amplicon Scanning of the TP53 Gene in Breast Cancer Using High-Resolution Fluorescent Melting Curve Analyses and Automatic Mutation Calling
Large Scale DNA Sequencing: New Challenges Emerge—The 2007 Human Genome Variation Society Scientific Meeting