Fig. 3From: Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review POR gene testing results of the patient and her parents. Exon 11 of POR harbored a homozygous mutation (c.1370G > A) which leads to a conversion of arginine at amino acid position 457 to histidine (R457H). The patient’s parents were both heterozygous carriers of this variantBack to article page