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机译:A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency.
Internal Medicine Unit, S. Gennaro Hospital, Via San Gennaro dei Poveri 25, 80136 Napoli, Italy.;
Adrenal Hyperplasia; Congenital; Adult; Amenorrhea; Amino Acid Substitution; DNA Mutational Analysis; DNA Primers; Female; Homozygote; Humans; Hypertension; Hypokalemia; Muscular Diseases; Mutation; Missense; Steroid 17-alpha-Hydroxylase;