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 here the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations i
โฆ LIBER โฆ
A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia
โ Scribed by N. Sugimoto; Sadahiko Iwamoto; Yuichi Hoshino; Eiji Kajii
- Publisher
- Nature Publishing Group
- Year
- 1998
- Tongue
- English
- Weight
- 541 KB
- Volume
- 43
- Category
- Article
- ISSN
- 1435-232X
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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