Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency

Keyphrases

• Exon 100%
• Novel mutation 100%
• Diacylglycerol Kinase 100%
• Pyruvate Kinase Deficiency 100%
• Clinical Heterogeneity 100%
• Hypoglycemia 50%
• Exon 9 50%
• Genotype-phenotype Correlation 50%
• Glycerol 25%
• Macromolecules 25%
• Gastrointestinal Diseases 25%
• Skin Fibroblasts 25%
• Direct Sequencing 25%
• Missense mutation 25%
• Trichloroacetic Acid 25%
• Exon 19 25%
• X-linked Disorder 25%
• Gene Analysis 25%
• Metabolic Crisis 25%
• Pseudohypertriglyceridemia 25%
• Molecular Heterogeneity 25%
• Nonsense mutation 25%
• Asymptomatic Adults 25%
• Symptomatic Patients 25%
• Convulsion 25%
• Ketoacidosis 25%
• 3' End 25%
• Catabolic State 25%
• Mutation Screening 25%
• Intact Skin 25%
• Fasting Test 25%
• Nucleotide Differences 25%
• Molecular Genotype 25%

Biochemistry, Genetics and Molecular Biology

• Exon 100%
• Glycerol Kinase Deficiency 100%
• Glycerol Kinase 100%
• Genotype Phenotype Correlation 28%
• Polymerase Chain Reaction 14%
• Missense Mutation 14%
• Glycerol 14%
• Macromolecule 14%
• Fibroblast 14%
• Nonsense Mutation 14%
• Gene Analysis 14%