Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene. [electronic resource]
Producer: 20050705Description: 3724-30 p. digitalISSN:- 0021-972X
- Adolescent
- Adrenal Cortex Hormones -- blood
- Adrenal Hyperplasia, Congenital -- enzymology
- Adrenocorticotropic Hormone
- Amino Acid Substitution
- Base Pairing
- Child
- Female
- Genes, Recessive
- Genitalia, Female -- abnormalities
- Humans
- Kinetics
- Male
- Models, Molecular
- Pedigree
- Point Mutation
- Protein Conformation
- Sequence Deletion
- Steroid 11-beta-Hydroxylase -- chemistry
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Publication Type: Case Reports; Journal Article
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