Two novel mutations found in a patient with 17α-hydroxylase enzyme deficiency

Keyphrases

• Novel mutation 100%
• Enzyme Deficiency 100%
• 17α-Hydroxylase 100%
• CYP17 Gene 100%
• Heterozygous mutation 66%
• Enzyme Activity 33%
• DNA Sequencing 33%
• Hypertension 33%
• Molecular Mechanism 33%
• Affected Females 33%
• Congenital Adrenal Hyperplasia 33%
• Female Patients 33%
• Rare Disorders 33%
• Exon 8 33%
• Structure Function 33%
• Exon 2 33%
• Enzymatic Function 33%
• P450c17 33%

Biochemistry, Genetics and Molecular Biology

• Enzyme Activity 100%
• Enzyme 100%
• Exon 100%
• Oxygenase 100%
• DNA Sequence 50%