Citations for
1HSD3B2
Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias.
Codner E, Okuma C, Iniguez G, Boric MA, Avila A, Johnson MC, Cassorla FG.
J Clin Endocrinol Metab 89(2):957-64. 2004
2HSD3B1, HSD3B2
Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility.
Chang BL, Zheng SL, Hawkins GA, Isaacs SD, Wiley KE, Turner A, Carpten JD, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB, Xu J.
Cancer Res 62(6):1784-9. 2002
3HSD3B2
Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents.
Nayak S, Lee PA, Witchel SF.
Mol Genet Metab 64 : 184-192. 1998
4HSD3B2
A new compound heterozygous frameshift mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causes salt-wasting 3beta-HSD deficiency congenital adrenal hyperplasia.
Zhang L, et al.
J Clin Endocrinol Metab 81 : 291-295. 1996
5HSD3B1, HSD3B2
Human 3beta-hydroxysteroid dehydrogenase : genes and phenotypes.
Sutcliffe RG, et al.
J Mol Endocrinol 17 : 1-5. 1996
6HSD3B2
Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3beta-hydroxysteroid dehydrogenase gene.
Mˇbarki F, et al.
J Clin Endocrinol Metab 80 : 2127-2134. 1995
7HSD3B1, HSD3B2
The human 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene cluster on chromosome 1p13 contains a presumptive pseudogene ; 3beta-HSD and CYP17 do not segregate with dominantly inherited hirsutism.
McBride MW, et al.
J Mol Endocrinol 15 : 167-176. 1995
8HSD3B1, HSD3B2, HSD3BP1, HSD3BP2, HSD3BP3
Structure-function relationships and molecular genetics of the 3beta-hydroxysteroid dehydrogenase gene family.
Simard J, et al.
J Steroid Biochem Mol Biol 55 : 489-505. 1995
9HSD3B2
A novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase deficiency.
Katsumata N, et al.
Hum Mol Genet 4 : 745-746. 1995
10HSD3B1, HSD3B2
No linkage to the 3beta-HSD gene cluster in a kindred affected with 3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency and early onset hepatic failure.
Russell A, et al.
Hum Genet 95 : 586-588. 1995
11HSD3B2
Molecular analysis of type II 3beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3beta-hydroxysteroid dehydrogenase deficiency.
Tajima T, et al.
Hum Mol Genet 4 : 969-971. 1995
12HSD3B2
Identification and characterization of the G15D mutation found in a male patient with 3beta-hydroxysteroid dehydrogenase (3beta-HSD) deficiency : alteration of the putative NAD-binding domain of type II 3beta-HSD.
Rhˇaume E, et al.
Biochemistry 34 : 2893-2900. 1995
13HSD3B1, HSD3B2
Genetic linkage mapping of HSD3B1 and HSD3B2 encoding human types I and II 3beta-hydroxysteroid dehydrogenase/delta5-delta4-isomerase close to D1S514 and the centromeric D1Z5 locus.
Morissette J, et al.
Cytogenet Cell Genet 69 : 59-62. 1995
14HSD3B2
Dinucleotide repeat polymorphisms in the HSD3B2 gene.
Verreault H, et al.
Hum Mol Genet 3 : 384. 1994
15HSD3B2
Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273deltaAA in type II 3beta-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin.
Simard J, et al.
Hum Mol Genet 3 : 327-330. 1994
16HSD3B2
Detection and functional characterization of the novel missense mutation Y254D in type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene of a female patient with nonsalt-losing 3beta HSD deficiency.
Sanchez R, et al.
J Clin Endocrinol Metab 78 : 561-567. 1994
17HSD3B2
Mutation in the human gene for 3beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss.
Russell AJ, et al.
J Mol Endocrinol 12 : 225-237. 1994
18HSD3B2
Functional characterization of the novel L108W and P186L mutations detected in the type II 3beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia.
Sanchez R, et al.
Hum Mol Genet 3 : 1639-1645. 1994
19HSD3B2
Mutations in the type II 3beta- hydroxysteroid dehydrogenase gene in a patient with classic salt wasting 3beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia.
Chang YT, et al.
Pediatr Res 34 : 698-700. 1993
20HSD3B2
Congenital adrenal hyperplasia due to point mutations in the type II 3beta-hydroxysteroid dehydrogenase gene.
Rhˇaume E, et al.
Nat Genet 1 : 239-245. 1992
21HSD3B2
Structure of the human type II 3 beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase (3beta-HSD) gene : adrenal and gonadal specificity.
Lachance Y, et al.
DNA Cell Biol 10 : 701-711. 1991