| 1 | BRCA1, HAPOD, HSD17B1 |
| Human familial and sporadic breast cancer : analysis of the coding regions of the 17beta-hydroxysteroid dehydrogenase 2 gene (EDH17B2) using a single-strand conformation polymorphism assay. | |
| Mannermaa A, et al. | |
| Hum Genet 93 : 319-324. 1994 | |
| 2 | BRCA1, HAPOD, HSD17B1 |
| A point mutation in the putative TATA box, detected in nondiseased individuals and patients with hereditary breast cancer, decreases promoter activity of the 17beta-hydroxysteroid dehydrogenase type 1 gene 2 (EDH17B2) in vitro. | |
| Peltoketo H, et al. | |
| Genomics 23 : 250-252. 1994 | |
| 3 | HAPOD, HSD17B1 |
| Ovarian 17-ketosteroid reductase deficiency as a possible cause of polycystic ovarian disease. | |
| Toscano V, Balducci R, Bianchi P, Mangiantini A, Sciarra F. | |
| J Clin Endocrinol Metab 71(2):288-92. 1990 | |
| 4 | HAPOD |
| Hirsutism, polycystic ovarian disease and ovarian 17-ketosteroid reductase deficiency. | |
| Pang S, et al. | |
| N Engl J Med 316 : 1295-1301. 1987 | |