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Article

Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.

15 Dec 1993

Abstract excerpt

We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries. The coding exons, namely exons II-X, of the CYP19 gene were amplified by PCR from genomic DNA and sequenced directly. Direct sequencing of the amplified DNA from the patient revealed two...

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PMID: 8265607
DOI: 10.1073/pnas.90.24.11673

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