Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency. [electronic resource]
Producer: 20140610Description: 697-706 p. digitalISSN:- 1479-683X
- Adrenal Hyperplasia, Congenital -- genetics
- Adult
- Amino Acid Substitution
- Child, Preschool
- Computational Biology
- Expert Systems
- Family Health
- Female
- Frameshift Mutation
- HEK293 Cells
- Humans
- Infant, Newborn
- Kinetics
- Male
- Models, Molecular
- Mutant Proteins -- chemistry
- Mutation
- Protein Conformation
- Recombinant Proteins -- chemistry
- Severity of Illness Index
- Steroid 11-beta-Hydroxylase -- chemistry
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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