Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review
Author:
Publisher
Springer Science and Business Media LLC
Subject
Obstetrics and Gynaecology,Oncology
Link
http://link.springer.com/content/pdf/10.1186/s13048-017-0312-9.pdf
Reference35 articles.
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2. Adachi M, Tachibana K, Asakura Y, Yamamoto T, Hanaki K, Oka A. Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. Am J Med Genet A. 2004;128A:333–9.
3. Arlt W, Walker EA, Draper N, Ivison HE, Ride JP, Hammer F, Chalder SM, Borucka-Mankiewicz M, Hauffa BP, Malunowicz EM, et al. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. Lancet. 2004;363:2128–35.
4. Pandey AV, Fluck CE, Huang N, Tajima T, Fujieda K, Miller WL. P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes. Endocr Res. 2004;30:881–8.
5. Miller WL, Huang N, Fluck CE, Pandey AV. P450 oxidoreductase deficiency. Lancet. 2004;364:1663.
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