Pub. Date : 2018 Dec
PMID : 30695673
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | 17-OHD is caused by mutations in the cytochrome P450c17 gene (CYP17A1), and characterized by hypertension, hypokalemia, female sexual infantilism, or male pseudohermaphroditism. | 17-ohd | cytochrome P450 family 17 subfamily A member 1 | Homo sapiens |
| 2 | 17-OHD is caused by mutations in the cytochrome P450c17 gene (CYP17A1), and characterized by hypertension, hypokalemia, female sexual infantilism, or male pseudohermaphroditism. | 17-ohd | cytochrome P450 family 17 subfamily A member 1 | Homo sapiens |
| 3 | In conclusion, we discovered two novel heterozygous CYP17A1 mutations Ile381Thr (c.1142T>C) and Ser168del (c.503_505delCCT) in a Chinese patient with 17-OHD. | 17-ohd | cytochrome P450 family 17 subfamily A member 1 | Homo sapiens |