Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia

Keyphrases

• CYP21A2 Gene 100%
• Congenital Adrenal Hyperplasia 100%
• 21-Hydroxylase Deficiency (21OHD) 100%
• Rare mutation 100%
• Missense mutation 50%
• Compound Heterozygous mutation 50%
• CYP21A2 Gene mutations 50%
• Cypriot 25%
• Direct Sequencing 25%
• Healthy Controls 25%
• Cypriot Population 25%
• MLPA Analysis 25%
• Carrier Rate 25%
• Sequence Analysis 25%
• Female Patients 25%
• Heterozygote 25%
• Nonclassical Congenital Adrenal Hyperplasia 25%
• Mild Phenotype 25%
• In Cis 25%
• Salt Wasting 25%

Biochemistry, Genetics and Molecular Biology

• Gene Mutation 100%
• Missense Mutation 100%
• Multiplex Ligation-Dependent Probe Amplification 50%
• Allele 50%
• 21-Hydroxylase 50%

Medicine and Dentistry

• Congenital Adrenal Hyperplasia 100%
• Missense Mutation 50%
• Gene Mutation 50%
• Allele 25%
• Multiplex Ligation Dependent Probe Amplification 25%
• Steroid 21 Monooxygenase Deficiency 25%
• Salt Wasting 25%