Phenotype/Genotype correlations in 21-hydroxylase deficiency

Keyphrases

• Genotype-phenotype Correlation 100%
• 21-Hydroxylase Deficiency (21OHD) 100%
• Promoter Region 40%
• Enzyme Activity 40%
• Congenital Adrenal Hyperplasia 40%
• Molecular Diagnostics 40%
• Homozygous Deletion 40%
• Splicing mutation 40%
• Genotype 20%
• DNA Samples 20%
• Polymerase Chain Reaction Amplification 20%
• Pittsburgh 20%
• Family Members 20%
• Children's Hospital 20%
• Restriction Fragment Length Polymorphism 20%
• Compound Heterozygous mutation 20%
• Hirsutism 20%
• Oligonucleotide Hybridization 20%
• Deleterious mutations 20%
• Oligomenorrhea 20%
• Phenotypic Heterogeneity 20%
• Allele-specific Oligonucleotides 20%
• Salt Loss 20%

Biochemistry, Genetics and Molecular Biology

• 21-Hydroxylase 100%
• Genotype Phenotype Correlation 100%
• Promoter Region 40%
• Intron 40%
• Enzyme Activity 40%
• Genotyping 20%
• Restriction Fragment Length Polymorphism 20%
• Phenotypic Heterogeneity 20%
• Polymerase Chain Reaction 20%
• Allele-Specific Oligonucleotide 20%