Art

J-GLOBAL ID：200902255903082526   Reference number：04A0209014

The Mutant(F310L and V365I) Tissue-Nonspecific Alkaline Phosphatase Gene from Hypophosphatasia

低ホスファターゼ血症の変異(F310LとV356I)組織非特異的アルカリ性ホスファターゼ遺伝子

Author (7)： TAKINAMI H (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  GOSEKI-SONE M (Japan Women’s Univ.) ,  WATANABE H (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  ORIMO H (Nippon Medical School) ,  HAMATANI R (Japan Women’s Univ.) ,  FUKUSHI-IRIE M (Japan Women’s Univ.) ,  ISHIKAWA I (Tokyo Medical and Dental Univ., Tokyo, JPN)
Material： Journal of Medical and Dental Sciences  (J Med Dent Sci)
Volume： 51  Issue： 1  Page： 67-74  Publication year： Mar. 2004 
JST Material Number： F0606A  ISSN： 1342-8810  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *inborn errors of metabolism ,...
Semi thesaurus term： hypophosphatasemia ,...

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JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Reference (39)：

• 1. Whyte MP. Hypophosphatasia. In: Peck WA (ed.) Bone and Mineral Research Vol. 6. New York: Elsevier Science Publishers, 1989:175-18.
• 2. Weiss MJ, Henthorn PS, Lafferty MA, et al. Isolation and characterization of a cDNA encoding a human liver/bone/kidneytype alkaline phosphatase. Proc Natl Aca Sci USA 1986;83:7182-86.
• 3. Henthorn PS, Raducha M, Kadesch T, et al. Sequence and characterization of the human intestinal alkaline phosphatase gene. J Biol Chem 1988;263:12011-019.
• 4. Knoll BJ, Rothblum KN, Longley M. Nucleotide sequence of the human placental alkaline phosphatase gene. J Biol Chem 1988;263:12020-027.
• 5. Weiss MJ, Ray K, Henthorn PS, et al. Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem 1988;263:12002-010.

Terms in the title (5)： 低ホスファターゼ血症 ,  変異 ,  組織 ,  アルカリ性ホスファターゼ ,  遺伝子