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Yago N, Ichii S. Submitochondrial distribution of components of the steroid 11 beta-hydroxylase and cholesterol sidechain-cleaving enzyme systems in hog adrenal cortex. J Biochem (Tokyo) 1969;65:215-24."},{"issue":"4","key":"3","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1093\/oxfordjournals.jbchem.a121955","volume":"101","author":"MOROHASHI K","year":"1987","ISSN":"https:\/\/id.crossref.org\/issn\/0021-924X","issn-type":"print"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Miller WL. Why no body has P450scc (20,22 desmolase) deficiency. J Clin Endocrinol Metab 1998;83:1399-400.","DOI":"10.1210\/jcem.83.4.4734-7"},{"key":"5","unstructured":"5. Prader A, Siebenmann RE. Nebenniereninsuffizienz bei kongrnitaler Lipoihyperplasie der Nebennieren. Helv Paediatr Acta 1957;12:569-95."},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL. 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