(Q73459837)
Statements
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 (English)
Taillandier A
Cozien E
Muller F
Merrien Y
Bonnin E
Fribourg C
Simon-Bouy B
Serre JL
Bieth E
Brenner R
Cordier MP
De Bie S
Fellmann F
Freisinger P
Hesse V
Hennekam RC
Josifova D
Kerzin-Storrar L
Leporrier N
Zabot MT