Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions

Keyphrases

• Codon 100%
• Convulsion 100%
• Alkaline Phosphatase Gene 100%
• Hypophosphatasia 100%
• Tissue-nonspecific Alkaline Phosphatase 100%
• Seizure 50%
• Missense mutation 50%
• DNA Sequence Analysis 50%
• Clinical Presentation 50%
• Genome Sequencing 50%
• Vitamin B6 50%
• Genotype-phenotype Correlation 50%
• Deleterious mutations 50%
• Transversion 50%
• Lethal Outcome 50%
• Perinatal Hypophosphatasia 50%

Biochemistry, Genetics and Molecular Biology

• Codon 100%
• Alkaline Phosphatase 100%
• Missense Mutation 50%
• DNA Sequence 50%
• Genotype Phenotype Correlation 50%
• Transversion 50%
• Genomics 50%
• Arginine 50%
• Pyridoxine 50%
• Vitamin B6 50%