| Literature DB >> 11438998 |
A Taillandier1, A S Lia-Baldini, M Mouchard, B Robin, F Muller, B Simon-Bouy, J L Serre, A Bera-Louville, M Bonduelle, J Eckhardt, D Gaillard, A G Myhre, S Körtge-Jung, L Larget-Piet, E Malou, D Sillence, I K Temple, G Viot, E Mornet.
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. Copyright 2001 Wiley-Liss, Inc.Entities:
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Year: 2001 PMID： 11438998 DOI： 10.1002/humu.1154
Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878