A Novel Stop Codon Mutation (X465Y) in the Argininosuccinate Lyase Gene in a Patient with Argininosuccinic Aciduria

スポンサーリンク

概要

論文の詳細を見る
2002-10-01

著者

関連論文

The Throat Flora and Its Mitogenic Activity in Patients with Kawasaki Disease
先天性心疾患において高感度CRPは低酸素血症とBNP上昇に関連して上昇する
Double outlet right ventricle with intact ventricular septum
Coil Occlusion of Patent Ductus Arteriosus : Impact of 0.052-Inch Gianturco Coil Without Amplatzer Duct Occluder
Coil Occlusion for Patent Ductus Arteriosus Larger Than 3mm
川崎病罹患患者における脈波伝搬速度(PWV)、足首関節/上腕血圧指数(ABI)の検討
Soluble G protein of respiratory syncytial virus inhibits Toll-like receptor 3/4-mediated IFN-beta induction
Carbamazepine-Induced Hemolytic and Aplastic Crises Associated with Reduced Glutathione Peroxidase Activity of Erythrocytes
Recent increase in the frequency of infant measles in Japan
A Novel Stop Codon Mutation (X465Y) in the Argininosuccinate Lyase Gene in a Patient with Argininosuccinic Aciduria
Application of Mutation Analysis for the Previously Uncertain Cases of Adult-Onset Type II Citrullinemia (CTLN2) and Their Clinical Profiles
Prolonged Incubation Period of Salmonellosis in an Outbreak of Salmonella enteritidis Infection
Consideration of Deformation of TiN Thin Films with Preferred Orientation Prepared by Ion-Beam-Assisted Deposition
Mechanical Properties of TiN Films with the Preferred Orientations by Nano-Indentation Method
Monte Carlo Simulation of Emission Efficiency of Cone-shaped Metal-Insulator-Semiconductor Cathode
Stability of Field Emission Current from Boron-Doped Diamond Thin Films Terminated with Hydrogen and Oxygen
Influences of Ambient Gases on the Emission Characteristics of Nickel-Deposited Field Emitters for Vacuum Microelectronics
Relationship between Effective Work Functions and Noise Powers of Emission Currents in Nickel-Deposited Field Emitters
Estimation of Metal-Deposited Field Emitters for the Micro Vacuum Tube
Hot Electron Effect in Short n^+nn^ GaAs
Occurrence of the African subgroup (la) of BK polyomavirus in younger Japanese children
Mutation screening of phenylketonuria in the Far East of Russia
Influence of valproic acid on the expression of various acyl-CoA dehydrogenases in rats
Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia
Data Analysis in Unsteady Turbulent Flow Measurement : Preliminary Study of Data Analysis of Turbulent Flow in Engine Cylinder
Nationwide survey of severe respiratory syncytial virus infection in children who do not meet indications for palivizumab in Japan
Connatal Pelizaeus-Merzbacher disease : A missense mutation in exon 4 of the proteolipid protein (PLP) gene
Diversity of staphylocoagulase and identification of novel variants of staphylocoagulase gene in Staphylococcus aureus
Improving High Precision and Continuous Process of Ultra-Fine Piercing by SiC Fiber Punch
RESEARCH ON EXPERIMENTALLY INDUCED CERVICAL CANCERS AND THE REACTIVITY OF SPLEEN CELLS TO CON A
A simple and rapid polymerase chain reaction-based method for detecting a prevalent mutation (R413P) in Japanese phenylketonuria
Rotavirus encephalitis and cerebellitis with reversible magnetic resonance signal changes
Japanese Guidelines for the Management of Respiratory Infectious Diseases in Children 2007 with focus on pneumonia
Chemical burn with systemic cresol intoxication
An evaluation of peripherally inserted central venous catheters for children with cancer requiring long-term venous access
Investigation of iodine deficient state and iodine supplementation in patients with severe motor and intellectual disabilities on long-term total enteral nutrition
Human cytomegalovirus UL97 D605E polymorphism has a high prevalence in immunocompetent Japanese infants and children
Full sequence analysis of the original Sapporo virus
A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease
N-Terminal Pro-Brain Natriuretic Peptide as a Useful Diagnostic Marker of Acute Kawasaki Disease in Children
The Burden of Rotavirus Gastroenteritis among Japanese Children during Its Peak Months: an Internet Survey

もっと見る

スポンサーリンク