McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene
Tài liệu tham khảo
McArdle, 1951, Clin. Sci., 10, 13
Mommaerts, 1959, 45, 791
Schmid, 1959, J. Clin. Invest., 38, 2044, 10.1172/JCI103983
DiMauro, 1987, Vol. 2, 1585
McConchie, 1991, Biochim. Biophys. Acta, 1096, 26, 10.1016/0925-4439(90)90008-D
Lebo, 1984, Science, 225, 57, 10.1126/science.6587566
Bartram, 1993, Hum. Mol. Genet., 2, 1291, 10.1093/hmg/2.8.1291
Beaudet, 1993, Human Mutation, 2, 245, 10.1002/humu.1380020402
Tsujino, 1993, N. Engl. J. Med., 329, 241, 10.1056/NEJM199307223290404
McIntosh, 1993, Nature genetics, 4, 204, 10.1038/ng0793-219