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J-GLOBAL ID：201102271675849009   Reference number：11A1679905

Hypophosphatasia now draws more attention of both clinicians and researchers: A Commentary on prevelance of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers

低ホスファターゼ症は現在,医師および研究者の双方からより多くの注目を集めている:日本人において周産期(致死)型低ホスファターゼ症の一般的な原因変異ALPLのc.1559delTの普及率,ならびにヘテロ接合型に対する変異の影響に関する注解

Author (2)： OZONO Keiichi (Osaka Univ. Graduate School of Medicine, Osaka, JPN) ,  MICHIGAMI Toshimi (Osaka Medical Center and Res. Inst. Maternal and Child Health, Osaka, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 56  Issue： 3  Page： 174-176  Publication year： Mar. 2011 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 解説  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： bone calcification ,...

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JST classification (4)： Congenital diseases,deformities in general.  (GD03010V) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Genetic variation  (EC01030Y) ,  Musculoskeletal diseases  (GG03000T)

Reference (14)：

• WHYTE, M. P. Physiological role of alkaline phosphatase explored in hypophosphatasia. Prolonged survival and phenotypic correction of Akp2(-/-) hypophosphatasia mice by lentiviral gene therapy. Ann. N. Y. Acad. Sci. 2010, 1192, 190-200
• MORNET, E. Hypophosphatasia. Orphanet. J. Rare. Dis. 2007, 2, 40
• NAKAMURA-UTSUNOMIYA, A. Clinical characteristics of perinatal lethal hypophosphatasia : a report of 6 cases. Clin. Pediatr. Endocrinol. 2010, 19, 7-13
• STEVENSON, D. A. Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. J. Clin. Endocrinol. Metab. 2008, 93, 3443-3448
• MICHIGAMI, T. Common mutations F31OL and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. Eur. J. Pediatr. 2005, 164, 277-282

Terms in the title (11)： 低ホスファターゼ症 ,  医師 ,  研究 ,  注目 ,  日本人 ,  周産期 ,  型 ,  原因 ,  変異 ,  普及率 ,  ヘテロ接合