Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia
Taillandier, A., Lia-Baldini, A.S., Mouchard, M., Robin, B., Muller, F., Simon-Bouy, B., Serre, J.L., Bera-Louville, A., Bonduelle, M., Eckhardt, J., Gaillard, D., Myhre, A.G., Kortge-Jung, S., Larget-Piet, L., Malou, E., Sillence, D., Temple, I.K., Viot, G. and Mornet, E. (2001) Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. Human Mutation, 18, (1), 83-84. (doi:10.1002/humu.1154).
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Description/Abstract
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.
| Item Type: | Article |
|---|---|
| ISSNs: | 1059-7794 (print) |
| Related URLs: | |
| Keywords: | hypophosphatasia, alkaline phosphatase, alpl, tnsalp |
| Subjects: | R Medicine > R Medicine (General) Q Science > QH Natural history > QH426 Genetics |
| Divisions: | University Structure - Pre August 2011 > School of Medicine > Human Genetics |
| Item ID: | 24975 |
| Date Deposited: | 06 Apr 2006 |
| Last Modified: | 02 Mar 2012 11:46 |
| Contributors: | Taillandier, A. (Author) Lia-Baldini, A.S. (Author) Mouchard, M. (Author) Robin, B. (Author) Muller, F. (Author) Simon-Bouy, B. (Author) Serre, J.L. (Author) Bera-Louville, A. (Author) Bonduelle, M. (Author) Eckhardt, J. (Author) Gaillard, D. (Author) Myhre, A.G. (Author) Kortge-Jung, S. (Author) Larget-Piet, L. (Author) Malou, E. (Author) Sillence, D. (Author) Temple, I.K. (Author) Viot, G. (Author) Mornet, E. (Author) |
| Date: | 2001 |
| Status: | Published |
| Contact Email Address: | ikt@soton.ac.uk |
| URI: | http://eprints.soton.ac.uk/id/eprint/24975 |
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