Article
Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme.
The Journal of clinical endocrinology and metabolism - 1 Feb 2000
Müller H L, Yamazaki M, Michigami T, Kageyama T, Schönau E, Schneider P, Ozono K
Abstract excerpt
Hypophosphatasia is characterized by the hypomineralization of bone associated with the mutation of the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Although the disease is usually autosomal recessive, an autosomal dominant form is also recognized. Approximately 50 mutations have been found in the TNSALP gene in patients with hypophosphatasia. However, the mutations identified to date do not seem to...
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