Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by p
β¦ LIBER β¦
Presence of two novel mutations of the ALPL gene in a Chinese patient with hypophosphatasia
β Scribed by Haijuan Liu; Mei Li; Xiaoping Xing; Weibo Xia; Wei Yu; Min Nie; Ou Wang; Yan Jiang; Xunwu Meng; Xueying Zhou; Yingying Hu; Huaicheng Liu
- Book ID
- 116323851
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 59 KB
- Volume
- 47
- Category
- Article
- ISSN
- 8756-3282
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