Hyperargininemia: A family with a novel mutation in an unexpected site

Keyphrases

• Novel mutation 100%
• Hyperargininemia 100%
• Arginase-1 (Arg-1) 80%
• Expression Pattern 40%
• Genetic Findings 40%
• Arab 20%
• Amino Acids 20%
• Early childhood 20%
• Codon 20%
• Clinical Course 20%
• Contracture 20%
• Urea Cycle 20%
• Liver 20%
• Developmental Delay 20%
• Autosomal Recessive 20%
• Late Diagnosis 20%
• Premature Termination Codon 20%
• Genetic Heterogeneity 20%
• Exon 3 20%
• Clinical Genetics 20%
• Base Change 20%
• Neurological Deterioration 20%
• Exon 4 20%
• Exonic Splicing Enhancer 20%
• Paraparesis 20%
• Hyperammonemia 20%
• CDNA Analysis 20%
• Urea Cycle Defect 20%
• Frame Insertion 20%
• Exon Splicing 20%
• Hyperreflexia 20%
• Neurodevelopmental Regression 20%
• ARG1 Gene 20%
• Enhancer mutations 20%
• Enhancement Phenomenon 20%
• Lower Limb Spasticity 20%

Medicine and Dentistry

• Argininemia 100%
• Exon 40%
• Codon 40%
• Lower Limb 20%
• Deterioration 20%
• Base 20%
• Prematurity 20%
• Autosomal Recessive Disorder 20%
• Complementary DNA 20%
• Disease Course 20%
• Amino Acid 20%
• Intron 20%
• Enhancer Region 20%
• Spasticity 20%
• Contracture 20%
• Hyperammonemia 20%
• Hyperreflexia 20%
• Genetic Heterogeneity 20%
• Urea Cycle 20%
• Urea Cycle Disorder 20%
• Diseases 20%