| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10762839 | Biochemical and Biophysical Research Communications | 2011 | 6 Pages |
Abstract
⺠Mutations in human POR cause congenital adrenal hyperplasia. ⺠We are reporting a novel 3 amino acid deletion mutation in POR P399_E401del. ⺠POR mutation P399_E401del decreased P450 activities by 60-85%. ⺠Impairment of steroid metabolism may be caused by multiple hits. ⺠Severity of aromatase inhibition is related to degree of in utero virilization.
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Authors
Christa E. Flück, Delphine Mallet, Gaby Hofer, Dinane Samara-Boustani, Juliane Leger, Michel Polak, Yves Morel, Amit V. Pandey,