Art
J-GLOBAL ID：200902189266417265
Reference number：02A0136814
Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia.
低ホスファターゼ血症の日本人患者における組織非特異的アルカリホスファターゼ遺伝子におけるヌクレオチド1559のT欠損の重要性
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Material：
Volume：
20
Issue：
1
Page：
28-33
Publication year：
2002
JST Material Number：
L0163A
ISSN：
0914-8779
Document type：
Article
Article type：
原著論文
Country of issue：
Germany, Federal Republic of (DEU)
Language：
ENGLISH (EN)
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JST classification (2)：
JST classification
Category name(code) classified by JST.
Clinical hematology in general
, Molecular genetics in general
Reference (27)：
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WHYTE, MP. The Metabolic and Molecular Bases of Inherited Disease. 1995, III, 4095-4111
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WEISS, MJ. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci USA. 1988, 85, 7666-7669
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HENTHORN, PS. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci USA. 1992, 89, 9924-9928
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GREENBERG, C R. A homoallelic Gly^317→Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomic. 1993, 17, 215-217
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FEDDE, KN. Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. J Clin Endocrinol Metab. 1996, 81, 2587-2594
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