Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure. [electronic resource]
Producer: 20130516Description: 819-22 p. digitalISSN:- 1097-6833
- Adrenal Insufficiency -- diagnosis
- Cholesterol Side-Chain Cleavage Enzyme -- deficiency
- DNA -- metabolism
- Exons
- Family Health
- Female
- Glucocorticoids -- deficiency
- Homozygote
- Humans
- Infant, Newborn
- Introns
- Kuwait
- Leukocytes -- metabolism
- Mineralocorticoids -- deficiency
- Models, Genetic
- Mutation
- Pedigree
- Phosphoproteins -- deficiency
- Polymorphism, Restriction Fragment Length
- Steroidogenic Acute Regulatory Protein
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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