Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine

Autor: Banwell, Brenda L, Ohno, Kinji, Sieb, Joern P, Engel, Andrew G
Zdroj: In Neuromuscular Disorders 2004 14(3):202-207
Databáze: ScienceDirect