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Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia |
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| Authors: | Taillandier A Cozien E Muller F Merrien Y Bonnin E Fribourg C Simon-Bouy B Serre J L Bieth E Brenner R Cordier M P De Bie S Fellmann F Freisinger P Hesse V Hennekam R C Josifova D Kerzin-Storrar L Leporrier N Zabot M T Mornet E |
| Institution: | Centre d'Etudes de Biologie Prénatale-SESEP, Université de Versailles, Versailles, France. |
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