Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and liver/bone/kidney -type alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of
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Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients
โ Scribed by Masae Goseki-Sone; Hideo Orimo; Tadahiro Iimura; Yuzo Takagi; Hisashi Watanabe; Kazuhisa Taketa; Seiji Sato; Hideaki Mayanagi; Takashi Shimada; Shinichiro Oida
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 537 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a s