Online Mendelian Inheritance in Man (OMIM)
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Agarwal, V. R., Ashanullah, C. I., Simpson, E. R., Bulun, S. E. Alternatively spliced transcripts of the aromatase cytochrome P450 (CYP19) gene in adipose tissue of women. J. Clin. Endocr. Metab. 82: 70-74, 1997. [PubMed: 8989235] [Full Text: https://doi.org/10.1210/jcem.82.1.3655]
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Aquila, S., Sisci, D., Gentile, M., Middea, E., Siciliano, L., Ando, S. Human ejaculated spermatozoa contain active P450 aromatase. J. Clin. Endocr. Metab. 87: 3385-3390, 2002. [PubMed: 12107254] [Full Text: https://doi.org/10.1210/jcem.87.7.8633]
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Bilezikian, J. P., Morishima, A., Bell, J., Grumbach, M. M. Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency. New Eng. J. Med. 339: 599-603, 1998. [PubMed: 9718379] [Full Text: https://doi.org/10.1056/NEJM199808273390905]
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Carani, C., Qin, K., Simoni, M., Faustini-Fustini, M., Serpente, S., Boyd, J., Korach, K. S., Simpson, E. R. Effect of testosterone and estradiol in a man with aromatase deficiency. New Eng. J. Med. 337: 91-95, 1997. [PubMed: 9211678] [Full Text: https://doi.org/10.1056/NEJM199707103370204]
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Chen, S., Besman, M. J., Sparkes, R. S., Zollman, S., Klisak, I., Mohandas, T., Hall, P. F., Shively, J. E. Human aromatase: cDNA cloning, Southern blot analysis, and assignment of the gene to chromosome 15. DNA 7: 27-38, 1988. [PubMed: 3390233] [Full Text: https://doi.org/10.1089/dna.1988.7.27]
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Chen, S., Shively, J. E., Nakajin, S., Shinoda, M., Hall, P. F. Amino terminal sequence analysis of human placenta aromatase. Biochem. Biophys. Res. Commun. 135: 713-719, 1986. [PubMed: 3964273] [Full Text: https://doi.org/10.1016/0006-291x(86)90987-3]
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Corbin, C. J., Graham-Lorence, S., McPhaul, M., Mason, J. I., Mendelson, C. R., Simpson, E. R. Isolation of a full-length cDNA insert encoding human aromatase system cytochrome P-450 and its expression in nonsteroidogenic cells. Proc. Nat. Acad. Sci. 85: 8948-8952, 1988. [PubMed: 2848247] [Full Text: https://doi.org/10.1073/pnas.85.23.8948]
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Deladoey, J., Fluck, C., Bex, M., Yoshimura, N., Harada, N., Mullis, P. E. Aromatase deficiency caused by a novel P450(arom) gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. J. Clin. Endocr. Metab. 84: 4050-4054, 1999. [PubMed: 10566648] [Full Text: https://doi.org/10.1210/jcem.84.11.6135]
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Diaz-Cruz, E. S., Shapiro, C. L., Brueggemeier, R. W. Cyclooxygenase inhibitors suppress aromatase expression and activity in breast cancer cells. J. Clin. Endocr. Metab. 90: 2563-2570, 2005. [PubMed: 15687328] [Full Text: https://doi.org/10.1210/jc.2004-2029]
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Ellis, J. A., Stebbing, M., Harrap, S. B. Significant population variation in adult male height associated with the Y chromosome and the aromatase gene. J. Clin. Endocr. Metab. 86: 4147-4150, 2001. [PubMed: 11549641] [Full Text: https://doi.org/10.1210/jcem.86.9.7875]
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Evans, C. T., Ledesma, D. B., Schulz, T. Z., Simpson, E. R., Mendelson, C. R. Isolation and characterization of a complementary DNA specific for human aromatase-system cytochrome P-450 mRNA. Proc. Nat. Acad. Sci. 83: 6387-6391, 1986. [PubMed: 3018730] [Full Text: https://doi.org/10.1073/pnas.83.17.6387]
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Fisher, C. R., Graves, K. H., Parlow, A. F., Simpson, E. R. Characterization of mice deficient in aromatase (ArKO) because of targeted disruption of the cyp19 gene. Proc. Nat. Acad. Sci. 95: 6965-6970, 1998. [PubMed: 9618522] [Full Text: https://doi.org/10.1073/pnas.95.12.6965]
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Gennari, L., Masi, L., Merlotti, D., Picariello, L., Falchetti, A., Tanini, A., Mavilia, C., Del Monte, F., Gonnelli, S., Lucani, B., Gennari, C., Brandi, M. L. A polymorphic CYP19 TTTA repeat influences aromatase activity and estrogen levels in elderly men: effects on bone metabolism. J. Clin. Endocr. Metab. 89: 2803-2810, 2004. [PubMed: 15181061] [Full Text: https://doi.org/10.1210/jc.2003-031342]
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George, F. W., Matsumine, H., McPhaul, M. J., Somes, R. G., Jr., Wilson, J. D. Inheritance of the henny feathering trait in the Golden Campine chicken: evidence for allelism with the gene that causes henny feathering in the Sebright Bantam. J. Hered. 81: 107-110, 1990. [PubMed: 2338489] [Full Text: https://doi.org/10.1093/oxfordjournals.jhered.a110938]
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George, F. W., Wilson, J. D. Pathogenesis of the henny feathering trait in the Sebright Bantam chicken. J. Clin. Invest. 66: 57-65, 1980. [PubMed: 7400309] [Full Text: https://doi.org/10.1172/JCI109835]
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Ghosh, D., Griswold, J., Erman, M., Pangborn, W. Structural basis for androgen specificity and oestrogen synthesis in human aromatase. Nature 457: 219-223, 2009. [PubMed: 19129847] [Full Text: https://doi.org/10.1038/nature07614]
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Haiman, C. A., Dossus, L., Setiawan, V. W., Stram, D. O., Dunning, A. M., Thomas, F., Thun, M. J., Albanes, D., Altshuler, D., Ardanaz, E., Boeing, H., Buring, J., and 27 others. Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women. Cancer Res. 67: 1893-1897, 2007. [PubMed: 17325027] [Full Text: https://doi.org/10.1158/0008-5472.CAN-06-4123]
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Haiman, C. A., Stram, D. O., Pike, M. C., Kolonel, L. N., Burtt, N. P., Altshuler, D., Hirschhorn, J., Henderson, B. E. A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort. Hum. Molec. Genet. 12: 2679-2692, 2003. [PubMed: 12944421] [Full Text: https://doi.org/10.1093/hmg/ddg294]
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Harada, N., Ogawa, H., Shozu, M., Yamada, K., Suhara, K., Nishida, E., Takagi, Y. Biochemical and molecular genetic analyses on placental aromatase (P-450-AROM) deficiency. J. Biol. Chem. 267: 4781-4785, 1992. [PubMed: 1371509]
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Harada, N., Ogawa, H., Shozu, M., Yamada, K. Genetic studies to characterize the origin of the mutation in placental aromatase deficiency. Am. J. Hum. Genet. 51: 666-672, 1992. [PubMed: 1496995]
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Harada, N. Cloning of a complete cDNA encoding human aromatase: immunochemical identification and sequence analysis. Biochem. Biophys. Res. Commun. 156: 725-732, 1988. [PubMed: 2973313] [Full Text: https://doi.org/10.1016/s0006-291x(88)80903-3]
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Heine, P. A., Taylor, J. A., Iwamoto, G. A., Lubahn, D. B., Cooke, P. S. Increased adipose tissue in male and female estrogen receptor-alpha knockout mice. Proc. Nat. Acad. Sci. 97: 12729-12734, 2000. [PubMed: 11070086] [Full Text: https://doi.org/10.1073/pnas.97.23.12729]
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Herrmann, B. L., Saller, B., Janssen, O. E., Gocke, P., Bockisch, A., Sperling, H., Mann, K., Broecker, M. Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene. J. Clin. Endocr. Metab. 87: 5476-5484, 2002. [PubMed: 12466340] [Full Text: https://doi.org/10.1210/jc.2002-020498]
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Imir, A. G., Lin, Z., Yin, P., Deb, S., Yilmaz, B., Cetin, M., Cetin, A., Bulun, S. E. Aromatase expression in uterine leiomyomata is regulated primarily by proximal promoters I.3/II. J. Clin. Endocr. Metab. 92: 1979-1982, 2007. [PubMed: 17341559] [Full Text: https://doi.org/10.1210/jc.2006-2482]
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Ishikawa, H., Fenkci, V., Marsh, E. E., Yin, P., Chen, D., Cheng, Y.-H., Reisterd, S., Lin, Z., Bulun, S. E. CCAAT/enhancer binding protein beta regulates aromatase expression via multiple and novel cis-regulatory sequences in uterine leiomyoma. J. Clin. Endocr. Metab. 93: 981-991, 2008. Note: Erratum: J. Clin. Endocr. Metab. 94: 1476 only, 2009. [PubMed: 18182446] [Full Text: https://doi.org/10.1210/jc.2007-2507]
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Ito, Y., Fisher, C. R., Conte, F. A., Grumbach, M. M., Simpson, E. R. Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. Proc. Nat. Acad. Sci. 90: 11673-11677, 1993. [PubMed: 8265607] [Full Text: https://doi.org/10.1073/pnas.90.24.11673]
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Jones, M. E. E., Thorburn, A. W., Britt, K. L., Hewitt, K. N., Wreford, N. G., Proietto, J., Oz, O. K., Leury, B. J., Robertson, K. M., Yao, S., Simpson, E. R. Aromatase-deficient (ArKO) mice have a phenotype of increased adiposity. Proc. Nat. Acad. Sci. 97: 12735-12740, 2000. [PubMed: 11070087] [Full Text: https://doi.org/10.1073/pnas.97.23.12735]
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Leshin, M., Baron, J., George, F. W., Wilson, J. D. Increased estrogen formation and aromatase activity in fibroblasts cultured from the skin of chickens with the Henny feathering trait. J. Biol. Chem. 256: 4341-4344, 1981. [PubMed: 7217085]
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Leshin, M., George, F. W., Wilson, J. D. Increased estrogen synthesis in the Sebright bantam is due to a mutation that causes increased aromatase activity. Trans. Assoc. Am. Phys. 94: 97-105, 1981. [PubMed: 7344234]
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Maffei, L., Murata, Y., Rochira, V., Tubert, G., Aranda, C., Vazquez, M., Clyne, C. D., Davis, S., Simpson, E. R., Carani, C. Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment. J. Clin. Endocr. Metab. 89: 61-70, 2004. [PubMed: 14715828] [Full Text: https://doi.org/10.1210/jc.2003-030313]
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Mango, D., Montemurro, A., Scirpa, P., Bompiani, A., Menini, E. Four cases of pregnancy with low estrogen production due to placental enzymatic deficiency. Europ. J. Obstet. Gynec. Reprod. Biol. 8: 65-71, 1978. [PubMed: 162557] [Full Text: https://doi.org/10.1016/0028-2243(78)90129-6]
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McTernan, P. G., Anderson. L. A., Anwar, A. J., Eggo, M. C., Crocker, J., Barnett, A. H., Stewart, P. M., Kumar, S. Glucocorticoid regulation of P450 aromatase activity in human adipose tissue: gender and site differences. J. Clin. Endocr. Metab. 87: 1327-1336, 2002. [PubMed: 11889205] [Full Text: https://doi.org/10.1210/jcem.87.3.8288]
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Morishima, A., Grumbach, M. M., Simpson, E. R., Fisher, C., Qin, K. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J. Clin. Endocr. Metab. 80: 3689-3698, 1995. [PubMed: 8530621] [Full Text: https://doi.org/10.1210/jcem.80.12.8530621]
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Mullis, P. E., Yoshimura, N., Kuhlmann, B., Lippuner, K., Jaeger, P., Harada, H. Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450(arom) gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. J. Clin. Endocr. Metab. 82: 1739-1745, 1997. [PubMed: 9177373] [Full Text: https://doi.org/10.1210/jcem.82.6.3994]
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Parakh, T. N., Hernandez, J. A., Grammer, J. C., Weck, J., Hunzicker-Dunn, M., Zeleznik, A. J., Nilson, J. H. Follicle-stimulating hormone/cAMP regulation of aromatase gene expression requires beta-catenin. Proc. Nat. Acad. Sci. 103: 12435-12440, 2006. [PubMed: 16895991] [Full Text: https://doi.org/10.1073/pnas.0603006103]
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Riancho, J. A., Valero, C., Naranjo, A., Morales, D. J., Sanudo, C., Zarrabeitia, M. T. Identification of an aromatase haplotype that is associated with gene expression and postmenopausal osteoporosis. J. Clin. Endocr. Metab. 92: 660-665, 2007. [PubMed: 17118999] [Full Text: https://doi.org/10.1210/jc.2006-1616]
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Robertson, K. M., O'Donnell, L., Jones, M. E. E., Meachem, S. J., Boon, W. C., Fisher, C. R., Graves, K. H., McLachlan, R. I., Simpson, E. R. Impairment of spermatogenesis in mice lacking a functional aromatase (cyp 19) gene. Proc. Nat. Acad. Sci. 96: 7986-7991, 1999. [PubMed: 10393934] [Full Text: https://doi.org/10.1073/pnas.96.14.7986]
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Sebastian, S., Bulun, S. E. A highly complex organization of the regulatory region of the human CYP19 (aromatase) gene revealed by the Human Genome Project. J. Clin. Endocr. Metab. 86: 4600-4602, 2001. [PubMed: 11600509] [Full Text: https://doi.org/10.1210/jcem.86.10.7947]
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Sebastian, S., Takayama, K., Shozu, M., Bulun, S. E. Cloning and characterization of a novel endothelial promoter of the human CYP19 (aromatase P450) gene that is up-regulated in breast cancer tissue. Molec. Endocr. 16: 2243-2254, 2002. [PubMed: 12351690] [Full Text: https://doi.org/10.1210/me.2002-0123]
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Shozu, M., Akasofu, K., Harada, T., Kubota, Y. A new cause of female pseudohermaphroditism: placental aromatase deficiency. J. Clin. Endocr. Metab. 72: 560-566, 1991. [PubMed: 1825497] [Full Text: https://doi.org/10.1210/jcem-72-3-560]
-
Shozu, M., Sebastian, S., Takayama, K., Hsu, W.-T., Schultz, R. A., Neely, K., Bryant, M., Bulun, S. E. Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene. New Eng. J. Med. 348: 1855-1865, 2003. [PubMed: 12736278] [Full Text: https://doi.org/10.1056/NEJMoa021559]
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Shozu, M., Sumitani, H., Segawa, T., Yang, H.-J., Murakami, K., Kasai, T., Inoue, M. Overexpression of aromatase P450 in leiomyoma tissue is driven primarily through promoter I.4 of the aromatase P450 gene (CYP19). J. Clin. Endocr. Metab. 87: 2540-2548, 2002. [PubMed: 12050211] [Full Text: https://doi.org/10.1210/jcem.87.6.8533]
-
Siegelmann-Danieli, N., Buetow, K. H. Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk. Brit. J. Cancer 79: 456-463, 1999. [PubMed: 10027313] [Full Text: https://doi.org/10.1038/sj.bjc.6690071]
-
Simpson, E. R., Michael, M. D., Agarwal, V. R., Hinshelwood, M. M., Bulun, S. E., Zhao, Y. Expression of the CYP19 (aromatase) gene: an unusual case of alternative promoter usage. FASEB J. 11: 29-36, 1997. [PubMed: 9034163] [Full Text: https://doi.org/10.1096/fasebj.11.1.9034163]
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Somner, J., McLellan, S., Cheung, J., Mak, Y. T., Frost, M. L., Knapp, K. M., Wierzbicki, A. S., Wheeler, M., Fogelman, I., Ralston, S. H., Hampson, G. N. Polymorphisms in the P450 c17 (17-hydroxylase/17,20-lyase) and P450 c19 (aromatase) genes: association with serum sex steroid concentrations and bone mineral density in postmenopausal women. J. Clin. Endocr. Metab. 89: 344-351, 2004. [PubMed: 14715870] [Full Text: https://doi.org/10.1210/jc.2003-030164]
-
Sparkes, R. S., Mohandas, T., Chen, S., Besman, M. J., Zollman, S., Shively, J. E. Assignment of the aromatase gene to human chromosome 15q21. (Abstract) Cytogenet. Cell Genet. 46: 696-697, 1987.
-
Tiulpakov, A., Kalintchenko, N., Semitcheva, T., Polyakov, A., Dedov, I., Sverdlova, P., Kolesnikova, G., Peterkova, V., Rubtsov, P. A potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome. J. Clin. Endocr. Metab. 90: 4184-4190, 2005. [PubMed: 15811932] [Full Text: https://doi.org/10.1210/jc.2004-2176]
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Toda, K., Terashima, M., Kawamoto, T., Sumimoto, H., Yokoyama, Y., Kuribayashi, I., Mitsuuchi, Y., Maeda, T., Yamamoto, Y., Sagara, Y., Ikeda, H., Shizuta, Y. Structural and functional characterization of human aromatase P-450 gene. Europ. J. Biochem. 193: 559-565, 1990. [PubMed: 2171939] [Full Text: https://doi.org/10.1111/j.1432-1033.1990.tb19372.x]
-
van Pottelbergh, I., Goemaere, S., Kaufman, J. M. Bioavailable estradiol and an aromatase gene polymorphism are determinants of bone mineral density changes in men over 70 years of age. J. Clin. Endocr. Metab. 88: 3075-3081, 2003. [PubMed: 12843146] [Full Text: https://doi.org/10.1210/jc.2002-021691]
-
Wang, Z. J., Jeffs, B., Ito, M., Achermann, J. C., Yu, R. N., Hales, D. B., Jameson, J. L. Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1. Proc. Nat. Acad. Sci. 98: 7988-7993, 2001. [PubMed: 11427738] [Full Text: https://doi.org/10.1073/pnas.141543298]
-
Whitlock, J. P., Jr. The regulation of cytochrome P-450 gene expression. Annu. Rev. Pharm. Toxicol. 26: 333-369, 1986. [PubMed: 3521459] [Full Text: https://doi.org/10.1146/annurev.pa.26.040186.002001]
-
Yang, S., Fang, Z., Suzuki, T., Sasano, H., Zhou, J., Gurates, B., Tamura, M., Ferrer, K., Bulun, S. Regulation of aromatase P450 expression in endometriotic and endometrial stromal cells by CCAAT/enhancer binding proteins (C/EBPs): decreased C/EBP-beta in endometriosis is associated with overexpression of aromatase. J. Clin. Endocr. Metab. 87: 2336-2345, 2002. [PubMed: 11994385] [Full Text: https://doi.org/10.1210/jcem.87.5.8486]
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Yue, X., Lu, M., Lancaster, T., Cao, P., Honda, S.-I., Staufenbiel, M., Harada, N., Zhong, Z., Shen, Y., Li, R. Brain estrogen deficiency accelerates A-beta plaque formation in an Alzheimer's disease animal model. Proc. Nat. Acad. Sci. 102: 19198-19203, 2005. [PubMed: 16365303] [Full Text: https://doi.org/10.1073/pnas.0505203102]
-
Zhou, D., Pompon, D., Chen, S. Structure-function studies of human aromatase by site-directed mutagenesis: kinetic properties of mutants pro308-to-phe, tyr361-to-phe, tyr361-to-leu, and phe406-to-arg. Proc. Nat. Acad. Sci. 88: 410-414, 1991. [PubMed: 1988941] [Full Text: https://doi.org/10.1073/pnas.88.2.410]
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Zmuda, J. M., Cauley, J. A., Kuller, L. H., Ferrell, R. E. A common promoter variant in the cytochrome P450c17-alpha (CYP17) gene is associated with bioavailable testosterone levels and bone size in men. J. Bone Miner. Res. 16: 911-917, 2001. [PubMed: 11341336] [Full Text: https://doi.org/10.1359/jbmr.2001.16.5.911]