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  • Title: Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient.
    Author: Wu C, Zhou Q, Wan L, Ni L, Zheng C, Qian Y, Jin J.
    Journal: Fertil Steril; 2011 Mar 01; 95(3):1122.e3-6. PubMed ID: 20947076.
    Abstract:
    OBJECTIVE: To show mutational analysis for 11β-hydroxylase deficiency (11β-OHD). DESIGN: Case report. SETTING: A laboratory of endocrinology at a university hospital. PATIENT(S): One Chinese woman with 11β-OHD referred to our clinic was observed in our study. INTERVENTION(S): Genomic DNA was extracted from peripheral blood leukocytes, and coding sequence abnormalities of the CYP11B1 gene were assessed by polymerase chain reaction and then direct sequencing analysis. MAIN OUTCOME MEASURE(S): Molecular characterization of the CYP11B1 gene. RESULT(S): A novel missense mutation (p.R454C) in the CYP11B1 gene was identified in our patient. CONCLUSION(S): Our study identified one novel mutation in the CYP11B1 gene. The expanded mutation database should benefit patients in the diagnosis and treatment of 11β-OHD.
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