Molecular basis of congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency

Keyphrases

• Congenital Adrenal Hyperplasia 100%
• Dehydrogenase Deficiency 100%
• Hydroxysteroid Dehydrogenase 100%
• Missense mutation 29%
• Exon 11%
• Male Patients 11%
• Enzymatic Activity 11%
• Gonad 11%
• Newborn Infant 5%
• Mammalian Cells 5%
• 11β-hydroxylase Deficiency 5%
• Ambiguous Genitalia 5%
• Unique Information 5%
• Structure-activity Relationship 5%
• Site-directed mutagenesis 5%
• Expression Analysis 5%
• Frameshift mutation 5%
• In Vitro Expression 5%
• Point mutation 5%
• Compound Heterozygous mutation 5%
• Nonsense mutation 5%
• Adrenal Tissue 5%
• Nucleotide Sequence 5%
• Five-point 5%
• Peripheral Tissues 5%
• Intracrine 5%
• 5′-flanking Region 5%
• Steroidogenesis 5%
• Recombinant Enzyme 5%
• Adrenal Insufficiency 5%
• DNA Fragments 5%
• Dehydrogenase Activity 5%
• Polymerase Chain Reaction Amplification 5%
• Gonadal Tissue 5%
• Normal Type 5%
• Degree of Severity 5%
• Salt-wasting Form 5%
• 21-hydroxylase 5%
• Adrenal Cortex 5%
• Inapparent 5%
• Dehydrogenase Enzyme 5%
• Steroid Biosynthesis 5%
• Redundant mutants 5%
• Male Pseudohermaphrodite 5%
• Placenta Tissue 5%
• Mutant Type 5%

Biochemistry, Genetics and Molecular Biology

• Hydroxysteroid Dehydrogenase 100%
• Deficiency 100%
• Missense Mutation 29%
• Steroid Biosynthesis 23%
• Enzyme Activity 11%
• Exon 11%
• Intron 5%
• Enzyme 5%
• DNA Flanking Region 5%
• Oxygenase 5%
• 21-Hydroxylase 5%
• Oxidoreductase 5%
• Structure Activity Relation 5%
• Site-Directed Mutagenesis 5%
• Point Mutation 5%
• Nonsense Mutation 5%
• Expression Analysis 5%
• Nucleotide Sequence 5%
• Polymerase Chain Reaction 5%