Pub. Date : 2019
PMID : 31695722
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | The 17alpha-hydroxylase/17,20-lyase deficiency (17-OHD) is an uncommon form of CAH caused by variants in the CYP17A1 gene. | 17-ohd | cytochrome P450 family 17 subfamily A member 1 | Homo sapiens |
| 2 | Aims: We report a novel compound heterozygous CYP17A1 variant and its association with the pathogenesis of 17-OHD. | 17-ohd | cytochrome P450 family 17 subfamily A member 1 | Homo sapiens |
| 3 | Conclusions: These results suggest that the compound heterozygous variant of c.1304T > C and c.1228delG of the CYP17A1 gene can lead to 17-OHD. | 17-ohd | cytochrome P450 family 17 subfamily A member 1 | Homo sapiens |