17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Yanase T, Simpson ER, Waterman MR (1991) Endocr Rev 12: 91-108 Cytochromes P450 in synthesis of steroid hormones, bile acids, vitamin D3 and cholesterol. Pikuleva I, Waterman M (1999) Mol Aspects Med 20: 33-42, 43-37 Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. Ahlgren R, Yanase T, Simpson ER, Winter JS, Waterman MR (1992) J Clin Endocrinol Metab 74: 667-72 Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene. Yanase T, Sanders D, Shibata A, Matsui N, Simpson ER, Waterman MR (1990) J Clin Endocrinol Metab 70: 1325-9 No mutation in cytochrome P450 side chain cleavage in a patient with congenital lipoid adrenal hyperplasia. Sakai Y, Yanase T, Okabe Y, Hara T, Waterman MR, Takayanagi R, Haji M, Nawata H (1994) J Clin Endocrinol Metab 79: 1198-201 Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia. Pallan PS, Lei L, Wang C, Waterman MR, Guengerich FP, Egli M (2015) Mol Endocrinol 29: 1375-84 Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient. Biason A, Mantero F, Scaroni C, Simpson ER, Waterman MR (1991) Mol Endocrinol 5: 2037-45 Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency. Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR (1988) Mol Endocrinol 2: 564-70 Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: a probe for analysis of 17 alpha-hydroxylase deficiency. Bradshaw KD, Waterman MR, Couch RT, Simpson ER, Zuber MX (1987) Mol Endocrinol 1: 348-54 Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia. Wang C, Pallan PS, Zhang W, Lei L, Yoshimoto FK, Waterman MR, Egli M, Guengerich FP (2017) J Biol Chem 292: 10767-10778 Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. Yanase T, Kagimoto M, Suzuki S, Hashiba K, Simpson ER, Waterman MR (1989) J Biol Chem 264: 18076-82 Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants. Zhao B, Lei L, Kagawa N, Sundaramoorthy M, Banerjee S, Nagy LD, Guengerich FP, Waterman MR (2012) J Biol Chem 287: 10613-10622 Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families. Kagimoto K, Waterman MR, Kagimoto M, Ferreira P, Simpson ER, Winter JS (1989) Hum Genet 82: 285-6 Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency. Imai T, Yanase T, Waterman MR, Simpson ER, Pratt JJ (1992) Hum Genet 89: 95-6 Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450. Yanase T, Kagimoto M, Matsui N, Simpson ER, Waterman MR (1988) Mol Cell Endocrinol 59: 249-53 Molecular basis of 17α-hydroxylase/17,20-lyase deficiency. Yanase T, Imai T, Simpson ER, Waterman MR (1992) J Steroid Biochem Mol Biol 43: 973-9 Sonographic findings in infants with congenital adrenal hyperplasia. Hernanz-Schulman M, Brock JW, Russell W (2002) Pediatr Radiol 32: 130-7
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