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^Pelletier G, Dupont E, Simard J, Luu-The V, Bélanger A, Labrie F (October 1992). "Ontogeny and subcellular localization of 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) in the human and rat adrenal, ovary and testis". J. Steroid Biochem. Mol. Biol. 43 (5): 451–67. doi:10.1016/0960-0760(92)90084-V. PMID1390295. S2CID53250659.
Further reading
Simard J, Durocher F, Mébarki F, et al. (1996). "Molecular biology and genetics of the 3 beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family". J. Endocrinol. 150 Suppl: S189–207. doi:10.1677/joe.0.150S189 (inactive 31 January 2024). PMID8943802.{{cite journal}}: CS1 maint: DOI inactive as of January 2024 (link)
Zachmann M, Forest MG, De Peretti E (1980). "3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age". Horm. Res. 11 (6): 292–302. doi:10.1159/000179067. PMID295036.
Rhéaume E, Simard J, Morel Y, et al. (1993). "Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene". Nat. Genet. 1 (4): 239–45. doi:10.1038/ng0792-239. PMID1363812. S2CID26468595.
Lachance Y, Luu-The V, Verreault H, et al. (1992). "Structure of the human type II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) gene: adrenal and gonadal specificity". DNA Cell Biol. 10 (10): 701–11. doi:10.1089/dna.1991.10.701. PMID1741954.
Morrison N, Nickson DA, McBride MW, et al. (1991). "Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation". Hum. Genet. 87 (2): 223–5. doi:10.1007/BF00204189. PMID2066113. S2CID38702281.
Mébarki F, Sanchez R, Rhéaume E, et al. (1995). "Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene". J. Clin. Endocrinol. Metab. 80 (7): 2127–34. doi:10.1210/jcem.80.7.7608265. PMID7608265.
Katsumata N, Tanae A, Yasunaga T, et al. (1995). "A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency". Hum. Mol. Genet. 4 (4): 745–6. doi:10.1093/hmg/4.4.745. PMID7633426.
Tajima T, Fujieda K, Nakae J, et al. (1995). "Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency". Hum. Mol. Genet. 4 (5): 969–71. doi:10.1093/hmg/4.5.969. PMID7633460.
Sanchez R, Mébarki F, Rhéaume E, et al. (1995). "Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia". Hum. Mol. Genet. 3 (9): 1639–45. doi:10.1093/hmg/3.9.1639. PMID7833923.
Rhéaume E, Sanchez R, Mébarki F, et al. (1995). "Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD". Biochemistry. 34 (9): 2893–900. doi:10.1021/bi00009a020. PMID7893703.
Rhéaume E, Sanchez R, Simard J, et al. (1994). "Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency". J. Clin. Endocrinol. Metab. 79 (4): 1012–8. doi:10.1210/jcem.79.4.7962268. PMID7962268.
Russell AJ, Wallace AM, Forest MG, et al. (1994). "Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss". J. Mol. Endocrinol. 12 (2): 225–37. doi:10.1677/jme.0.0120225. PMID8060486.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
Sanchez R, Rhéaume E, Laflamme N, et al. (1994). "Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency". J. Clin. Endocrinol. Metab. 78 (3): 561–7. doi:10.1210/jcem.78.3.8126127. PMID8126127.
Mendonça BB, Russell AJ, Vasconcelos-Leite M, et al. (1994). "Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females". J. Mol. Endocrinol. 12 (1): 119–22. doi:10.1677/jme.0.0120119. PMID8185809.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
This page was last edited on 1 February 2024, at 16:25