Influence of Age and Gender on the Clinical Expression of Acute Intermittent Porphyria Based on Molecular Study of Porphobilinogen Deaminase Gene Among Swiss Patients

被引：0
作者：
Macé M. Schuurmans
Xiaoye Schneider-Yin
Urszula B. Rüfenacht
Cécile Schnyder
Christoph E. Minder
Hervé Puy
Jean-Charles Deybach
Elisabeth I. Minder
机构：
[1] Medizinische Universitätsklinik B,Departement für Innere Medizin
[2] Stadtspital Triemli,Zentrallabor
[3] Universität Bern,Institut für Sozial
[4] INSERM U 409, und Präventiv
[5] Hopital Louis Mourier,Medizin
来源：
Molecular Medicine | 2001年 / 7卷
关键词：
Acute Intermittent Porphyria; Cumulative Life-time Risk; Gene PBGD; Mutation W283X; Index Patient;
D O I：
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学科分类号：
摘要：
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页码：535 / 542
页数：7
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