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J-GLOBAL ID：201102270426448383   Reference number：11A1679903

Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers

ALPLにおけるc.1559delTの保有率,日本人における低ホスファターゼ血症の周産期(致命的)型をもたらす共通変異およびヘテロ接合性保因者に対する変異の効果

Author (9)： WATANABE Atsushi (Nippon Medical School Hospital, Tokyo, JPN) ,  WATANABE Atsushi (Nippon Medical School, Tokyo, JPN) ,  KARASUGI Tatsuki (RIKEN, Tokyo, JPN) ,  SAWAI Hideaki (Hyogo Coll. Medicine, Nishinomiya, JPN) ,  NAING Banyar Than (Nippon Medical School, Tokyo, JPN) ,  IKEGAWA Shiro (RIKEN, Tokyo, JPN) ,  ORIMO Hideo (Nippon Medical School, Tokyo, JPN) ,  SHIMADA Takashi (Nippon Medical School Hospital, Tokyo, JPN) ,  SHIMADA Takashi (Nippon Medical School, Tokyo, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 56  Issue： 2  Page： 166-168  Publication year： Feb. 2011 
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： *inborn errors of metal metabolism ,...
Semi thesaurus term： ALPL ,...

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JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J)

Substance index (1)： Phosphoethanolamine

Reference (20)：

• MORNET, E. Hypophosphatasia. Best Pract. Res. Clin. Rheumatol. 2008, 22, 113-127
• WHYTE, M. P. Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr. Rev. 1994, 15, 439-461
• SATOH, N. The birth prevalence rates for skeletal dysplasia in the registration system of the Japan Forum of Fetal Skeletal Dysplasia. J. Jan. Perinat. Neonat. Med. 2009, 45, 1005-1007
• GEHRING, B. Perinatal hypophosphatasia : diagnosis and detection of heterozygote carriers within the family. Clin. Genet. 1999, 56, 313-317
• SPENTCHIAN, M. Severe hypophosphatasia : characterization of fifteen novel mutations in the ALPL gene. Hum. Mutat. 2003, 22, 105-106

Terms in the title (8)： 保有率 ,  日本人 ,  低ホスファターゼ血症 ,  周産期 ,  型 ,  変異 ,  ヘテロ接合性 ,  保因者