| Autor: |
Taillandier, A., Mary-Louise Bonduelle, Lia-Baldini, A. S., Mouchard, M., Robin, B., Muller, F., Simon-Bouy, B., Serre, J. L., Bera-Louville, A., Eckhardt, J., Gaillard, D., Myhre, A. G., Körtge-Jung, S., Larget-Piet, L., Malou, E., Sillence, D., Temple, I. K., Viot, G., Mornet, E. |
| Přispěvatelé: |
Department of Embryology and Genetics |
| Předmět: |
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| Zdroj: |
Vrije Universiteit Brussel |
| Popis: |
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 in a series of 11 families affected by various forms of hypophosphatasia. Nineteen distinct mutations were found, 7 of which were previously reported. Eleven of the 12 new mutations were missense mutations (Y11C, A34V, R54H, R135H, N194D, G203V, E218G, D277Y, F310G, A382S, V406A), the last one (998-1G>T) was a mutation affecting acceptor splice site. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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