Abstract
This book demonstrates that each steroid disorder causing both clinical and biochemical abnormalities in patients now has a genetic basis. The genes for each step in steroidogenesis have been mapped and cloned, and the mutations in the gene causing the disorder have been described. In addition, the structural biology of the protein resulting from the mutation in the gene has been reported for many of the disorders.
Original language | English |
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Title of host publication | Genetic Steroid Disorders |
Publisher | Elsevier Inc. |
Pages | 1-3 |
Number of pages | 3 |
ISBN (Print) | 9780124160064 |
DOIs | |
State | Published - Sep 2013 |
Keywords
- Biochemical abnormalities
- Clinical abnormalities
- Steroid disorders
- Steroidogenesis