Citations for
1CBR4, DHRS1, DHRS1, DHRS11, DHRS12, DHRS7C, DHRSX, FAR1, FAR2, HSD17B11, HSD17B13, HSD17B14, HSD17B2, HSD17B3, HSD17B4, HSD17B6, HSD17B7P2, HSD17B8, HSD17BP1, HSD3B7, HSDL1, QDPR, RDH10, RDH12, RDH13, SDR16C6, SDR39U1, SDR42E1, TDH, TGDS, UXS1
The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.
Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jörnvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U.
Chem Biol Interact 178(1-3):94-8. Epub 2008 Nov 5. 2009
2HSD17B3, HSD17B3D
Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
Lindqvist A, Hughes IA, Andersson S.
J Clin Endocrinol Metab 86(2):921-3. 2001
3HSD17B3, HSD17B3D
Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).
Moghrabi N, et al.
J Clin Endocrinol Metab 83 : 2855-2860. 1998
4HSD17B3
A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.
Bilbao JR, et al.
Eur J Endocrinol 139 : 330-333. 1998
5HSD17B3, HSD17B3D
Male pseudohermaphroditism caused by mutations of testicular 17beta-hydroxysteroid dehydrogenase 3.
Geissler WM, et al.
Nat Genet 7 : 34-39. 1994
6HSD17B1, HSD17B2, HSD17B3, HSD17BP1
Structure of two in tandem human 17 beta-hydroxysteroid dehydrogenase genes.
Luu-The V, et al.
Mol Endocrinol 4 : 268-275. 1990