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Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype–phenotype correlations

✍ Scribed by Isabelle Brun-Heath; Agnes Taillandier; Jean-Louis Serre; Etienne Mornet

Book ID
116987588
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
606 KB
Volume
84
Category
Article
ISSN
1096-7192

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Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia
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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