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Literature summary for 1.14.15.4 extracted from
- Familial pericentric inversion chromosome 3 and R448C mutation of CYP11B1 gene in Turkish kindred with 11beta-hydroxylase deficiency (2007), J. Endocrinol. Invest., 30, 285-291.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| gene CYP11B1, maps to chromosome 8q24, DNA and amino acid sequence determination and analysis of wild-type and mutant enzymes, genotyping, the breakpoint in 3p might be a candidate region affecting variations in pheotypes of enzyme deficiency, overview | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| R448C | naturally occuring mutation, cytogenetic analysis and phenotyping, overview | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
gene CYP11B1 | - |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| 11beta-hydroxylase | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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