A. Engel

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the E subunit

K. Ohno, M. Milone, J. Brengman, 2005 .

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.

S. Dimauro, S. Tsujino, R. Hirschhorn, 1994, Human molecular genetics.

Loss of E2F4 activity leads to abnormal development of multiple cellular lineages.

Seiichi Ishida, J. Nevins, J. Pipas, 2000, Molecular cell.

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.

S. Dimauro, Y. Goto, S. Tsujino, 1998, Biochemical and biophysical research communications.