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Clinical and genetic analysis of cytochrome P450 oxidoreductase (POR) deficiency in a female and the analysis of a novel POR intron mutation causing alternative mRNA splicing

Tao Zhang, Zhou Li, Xinling Ren, Bo Huang, Guijin Zhu, Wei Yang, Lei Jin

2020Journal of Assisted Reproduction and Genetics14 citationsDOIOpen Access PDF

Topics & Concepts

BiologyMutationCompound heterozygosityExonMolecular biologyGeneticsEndocrinologyInternal medicineGeneMedicinePharmacogenetics and Drug MetabolismGlutathione Transferases and PolymorphismsGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Clinical and genetic analysis of cytochrome P450 oxidoreductase (POR) deficiency in a female and the analysis of a novel POR intron mutation causing alternative mRNA splicing | Litcius