In Vitro Expression Studies of a Novel Mutation Δ299 in a Patient Affected with Apparent Mineralocorticoid Excess

Keyphrases

• Expression Study 100%
• Novel mutation 100%
• In Vitro Expression 100%
• Apparent Mineralocorticoid Excess 100%
• Nephrocalcinosis 66%
• Low Birth Weight 66%
• Aldosterone 66%
• Tetrahydrocortisol 66%
• Hypertensive Retinopathy 66%
• Cortisone 66%
• Sequence Analysis 33%
• Chinese Hamster Ovary Cells 33%
• Hypertension 33%
• Cortisol 33%
• Clinical Features 33%
• Autosomal Recessive 33%
• Left Ventricular Hypertrophy 33%
• Moderate to Severe 33%
• Severe Hypertension 33%
• Hypokalemia 33%
• Echocardiogram 33%
• Consanguineous 33%
• Female Patients 33%
• Biochemical Analysis 33%
• Tetrahydrocortisone 33%
• Urinary Cortisol 33%
• Phenotypic Characteristics 33%
• Hydroxysteroid Dehydrogenase 33%
• Cortisol Secretion 33%
• Exon 5 33%
• Failure to Thrive 33%
• Plasma Renin Activity 33%
• Metabolite Ratios 33%
• Weight Failure 33%
• Hypokalemic Metabolic Alkalosis 33%
• HSD11B2 Gene 33%
• Ophthalmological 33%
• Pakistani Family 33%
• Secretion Rate 33%
• Low-renin Hypertension 33%

Pharmacology, Toxicology and Pharmaceutical Science

• Apparent Mineralocorticoid Excess Syndrome 100%
• Hypertension Retinopathy 66%
• Cortisone 66%

Biochemistry, Genetics and Molecular Biology

• Cortisone 66%
• Tetrahydrocortisol 66%
• Tetrahydrocortisone 33%