Molecular and structural analysis of two novel STAR mutations in patients with lipoid congenital adrenal hyperplasia

Biochemistry, Genetics and Molecular Biology

• Steroid Biosynthesis 100%
• Splice Site Mutation 100%
• Lipid 100%
• Missense Mutation 100%
• Infancy 100%
• Fetus Development 100%
• Cholesterol Transport 100%

Keyphrases

• Lipoid Congenital Adrenal Hyperplasia 100%
• Steroidogenic Acute Regulatory Protein (StAR) 100%
• 46,XY 66%
• Functional Role 33%
• Missense mutation 33%
• At Birth 33%
• Steroidogenesis 33%
• Splicing mutation 33%
• Fetal Development 33%
• Cholesterol Transport 33%
• Transfer Domain 33%
• Early Infancy 33%
• Primary Adrenal Insufficiency 33%
• Adrenal Failure 33%
• Lipid Transfer 33%
• Parotid Tumor 33%

Medicine and Dentistry

• Lipoid Congenital Adrenal Hyperplasia 100%
• Steroidogenic Acute Regulatory Protein 100%
• Adrenal Insufficiency 66%
• Fetus Development 33%
• Missense Mutation 33%
• Infancy 33%
• Steroidogenesis 33%
• Cholesterol Transport 33%
• Parotid Gland Tumor 33%