3.
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.
机译:组织中的15个新突变(-195C> T,L-12X,298-2A> G,T117N,A159T,R229S,997 + 2T> A,E274X,A331T,H364R,D389G,1256delC,R433H,N461I,C472S) -低特异性碱性磷酸酶(TNSALP)基因在低磷血症患者中的表达。