Genetic Analysis of Two Japanese Patients with Non-classical 21-Hydroxylase Deficiency
スポンサーリンク
概要
- 論文の詳細を見る
We report two Japanese women with androgen excess symptoms. Analyses of 21-hydroxylase gene demonstrated that a 24-year-old Japanese woman had a homozygous mutation of IVS2-13 A/C>G, while a 25-year-old Japanese woman had a compound heterozygous mutation of I172N and E245del1nt, a novel mutation which would result in completely nonfunctional enzyme due to a frame shift. As IVS2-13 A/C>G and I172N have been classified as mutations leading to severe impairment in enzyme activity, this study not only clarified a novel mutation causing 21-hydroxylase deficiency, but also demonstrated that genotype and phenotype do not correlate well in these cases.
著者
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Imamine Rui
Department of Endocrinology and Diabetes, Field of Internal Medicine, Nagoya University Graduate Sch
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Arima Hiroshi
Department of Endocrinology and Diabetes, Field of Internal Medicine, Nagoya University Graduate Sch
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Kusakabe Miho
Department of Endocrinology and Diabetes, Field of Internal Medicine, Nagoya University Graduate Sch
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Umeda Hiroshi
Department of Endocrinology and Diabetes, Field of Internal Medicine, Nagoya University Graduate Sch
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Sato Ikuko
Department of Endocrinology and Diabetes, Field of Internal Medicine, Nagoya University Graduate Sch
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Homma Keiko
Central Clinical Laboratories, Keio University Hospital
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Usui Takeshi
Clinical Research Institute, Center for Endocrine and Metabolic Disease, National Hospital Organizat
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Oiso Yutaka
Department of Endocrinology and Diabetes, Field of Internal Medicine, Nagoya University Graduate Sch
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Oiso Yutaka
Department Of Endocrinology And Diabetes Nagoya University Graduate School Of Medicine
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Usui Takeshi
Clinical Research Institute Division Of Endocrinology And Metabolism Kyoto Medical Center National H
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Homma Keiko
Central Clinical Laboratories Keio University Hospital
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Umeda Hiroshi
Deparment Of Urology Dokkyo University School Of Medicine
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Imamine Rui
Department of Endocrinology and Diabetes, Field of Internal Medicine, Nagoya University Graduate School of Medicine
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