(Q56459530)
Statements
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype (English)
M L Huie
S Tsujino
S Sklower Brooks
A Engel
E Elias
C Bessley
S Shanske
S DiMauro
Y I Goto