Art

J-GLOBAL ID：200902222287698830   Reference number：09A0854601

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

早期発症高尿酸血症,貧血および慢性腎不全に関連した優勢レニン遺伝子変異

Author (40)： ZIVNA Martina (Center for Applied Genomics, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  ZIVNA Martina (Inst. for Inherited Metabolic Disorders, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  HULKOVA Helena (Inst. for Inherited Metabolic Disorders, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  MATIGNON Marie (Assistance Publique-Hopitaux de Paris (AP-HP), Nephrology and Transplantation Unit, Henri Mondor Hospital, Creteil ...) ,  MATIGNON Marie (Paris XII Univ., Creteil 94010, FRA) ,  HODANOVA Katerina (Center for Applied Genomics, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  HODANOVA Katerina (Inst. for Inherited Metabolic Disorders, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  VYLET'AL Petr (Center for Applied Genomics, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  VYLET'AL Petr (Inst. for Inherited Metabolic Disorders, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  KALBACOVA Marie (Center for Applied Genomics, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  KALBACOVA Marie (Inst. for Inherited Metabolic Disorders, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  BARESOVA Veronika (Center for Applied Genomics, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  BARESOVA Veronika (Inst. for Inherited Metabolic Disorders, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  SIKORA Jakub (Inst. for Inherited Metabolic Disorders, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  BLAZKOVA Hana (Inst. for Inherited Metabolic Disorders, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  ZIVNY Jan (Inst. of Pathophysiology, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  IVANEK Robert (Center for Applied Genomics, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  IVANEK Robert (Inst. for Inherited Metabolic Disorders, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  STRANECKY Viktor (Center for Applied Genomics, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  STRANECKY Viktor (Inst. for Inherited Metabolic Disorders, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  SOVOVA Jana (Inst. for Inherited Metabolic Disorders, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  CLAES Kathleen (Dep. of Nephrology, Univ. Hospital Gasthuisberg, Leuven 3000, BEL) ,  LERUT Evelyne (Dep. of Nephrology, Univ. Hospital Gasthuisberg, Leuven 3000, BEL) ,  FRYNS Jean-pierre (Center for Human Genetics, Univ. of Leuven, Leuven 3000, BEL) ,  HART P. Suzanne (Office of the Clinical Director, National Human Genome Res. Inst., National Institutes of Health, Bethesda, MD ...) ,  HART Thomas C. (Human Craniofacial Genetics Section, National Inst. of Dental and Craniofacial Res., National Institutes of Health ...) ,  ADAMS Jeremy N. (Office of the Clinical Director, National Human Genome Res. Inst., National Institutes of Health, Bethesda, MD ...) ,  PAWTOWSKI Audrey (Assistance Publique-Hopitaux de Paris (AP-HP), Dep. de Genetique, Hopital Necker-Enfants Malades, Paris 75015, FRA) ,  CLEMESSY Maud (INSERM U833, Coll. de France, Paris 75005, FRA) ,  GASC Jean-marie (INSERM U833, Coll. de France, Paris 75005, FRA) ,  GUEBLER Marie-claire (INSERM U574, Hopital Necker-Enfants Malades, Paris 75015, FRA) ,  GUEBLER Marie-claire (Univ. Paris Descartes, Fac. de Medecine, Paris 75006, FRA) ,  ANTIGNAC Corinne (Assistance Publique-Hopitaux de Paris (AP-HP), Dep. de Genetique, Hopital Necker-Enfants Malades, Paris 75015, FRA) ,  ANTIGNAC Corinne (INSERM U574, Hopital Necker-Enfants Malades, Paris 75015, FRA) ,  ANTIGNAC Corinne (Univ. Paris Descartes, Fac. de Medecine, Paris 75006, FRA) ,  ELLEDER Milan (Center for Applied Genomics, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  ELLEDER Milan (Inst. for Inherited Metabolic Disorders, Charles Univ. in Prague, First Fac. of Medicine, Prague 12000, CZE) ,  KAPP Katja (ZMBH (Center for Molecular Biology Heidelberg), Univ. of Heidelberg, Heidelberg D-69120, DEU) ,  GRIMBERT Philippe (Assistance Publique-Hopitaux de Paris (AP-HP), Nephrology and Transplantation Unit, Henri Mondor Hospital, Creteil ...) ,  GRIMBERT Philippe (Paris XII Univ., Creteil 94010, FRA)
Material： American Journal of Human Genetics  (AJHG)
Volume： 85  Issue： 2  Page： 204-213  Publication year： Aug. 14, 2009 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Terms in the title (7)： 早期 ,  発症 ,  高尿酸血症 ,  貧血 ,  慢性腎不全 ,  レニン ,  遺伝子変異