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J-GLOBAL ID：200902169188878918   Reference number：01A0433587

A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia.

常染色体優性低カルシウム血症の日本人1家系におけるカルシウム感受性受容体遺伝子での新規な活性化突然変異(C129S)

Author (9)： HIRAI H (Osaka Univ. Graduate School of Medicine, Osaka, JPN) ,  NAKAJIMA S (Osaka Univ. Graduate School of Medicine, Osaka, JPN) ,  NISHIMURA K (Osaka Univ. Graduate School of Medicine, Osaka, JPN) ,  SHIMIZU N (Osaka Univ. Graduate School of Medicine, Osaka, JPN) ,  SHIMA M (Osaka Univ. Graduate School of Medicine, Osaka, JPN) ,  OKADA S (Osaka Univ. Graduate School of Medicine, Osaka, JPN) ,  MIYAUCHI A (National Sanatorium Hyogo Chuo Hospital, Hyogo, JPN) ,  MICHIGAMI T (Osaka Medical Center and Res. Inst. Maternal and Child Health, Osaka, JPN) ,  OZONO K (Osaka Medical Center and Res. Inst. Maternal and Child Health, Osaka, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 46  Issue： 1  Page： 41-44  Publication year： 2001 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 短報  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： hypoparathyroidism syndrome ,...

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JST classification (2)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Genetic variation  (EC01030Y)

Reference (16)：

• BAI, M. Dimerization of the extracellular calcium-sensing receptor (CaR) on the cell surface of CaR-transfected HEK293 cells. J Biol Chem. 1998, 273, 23605-23610
• BARON, J. Mutations in the Ca^<2+>-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hun Mol Genet. 1996, 5, 601-606
• BROWN, EM. Cloning and characterization of an extracellular Ca^<2+>-sensing receptor from bovine parathyroid. Nature. 1993, 366, 575-580
• DE LUCA, F. Sporadic hypoparathyroidism caused by de novo gain-of-function mutations of the Ca^<2+>-sensing receptor. J Clin Endocrinol Metab. 1997, 82, 2710-2715
• GARRETT, JE. Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J Biol Chem. 1995, 270, 12919-12925

Terms in the title (9)： 常染色体 ,  優性 ,  低カルシウム血症 ,  日本人 ,  家系 ,  カルシウム感受性 ,  受容体遺伝子 ,  活性化 ,  突然変異