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Detection of Mutations in the CYP21 Gene Using the DCode System

lasia, Hum. Mutat., 9(4):3635 (1997).

7. Kirby Keyser, L., Porter, C. C., and Donohoue, P. A., E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Hum. Genet., 9(2):1812 (1997).

8. Lajic, S., Levo, A., Nikoshkov, A., Lundberg, Y., Partanen, J., and Wedell, A., A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction, Hum. Genet., 99(6):7049 (1997).

9. Guldberg, P., and Guttler, F., A simple method for identification of point mutations using denaturing gradient gel electrophoresis, Nucleic Acids Res., 21(9):22612 (1993).

10. Sheffield, V. C., Cox, D. R., Lerman, L. S., and Myers, R. M., Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of singlebase changes, Proc. Natl. Acad. Sci. U S A, 86(1):23269 (1989).

11. Miller, S. A., Dykes, D. D., and Polesky, H. F., A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Res., 16(3):1215 (1988).

12. Wedell, A, and Luthman, H., Steroid 21-hydroxylase deficiency: two additional mutations in saltwasting disease and rapid screening of disease-causing mutations, Hum. Mol. Genet., 2:499504 (1993).

13. Kuipers, O. P., Boot, H. J., and de Vos, W. M., Improved site-directed mutagenesis method using PCR, Nucleic Acids Res.,19(16):4558 (1991).

14. Landt, O., Grunert, H. P., and Hahn, U., A general method for rapid sitedirected mutagenesis using the polymerase chain reaction, Gene, 96(1):1258 (1990).
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