Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

Autor: Mazón, María J., Barros, Francisco, De la Peña, Pilar, Quesada, Juan F., Escudero, Adela, Cobo, Ana M., Pascual-Pascual, Samuel I., Gutiérrez-Rivas, Eduardo, Guillén, Encarna, Arpa, Javier, Eraso, Pilar, Portillo, Francisco, Molano, Jesús
Zdroj: In Neuromuscular Disorders March 2012 22(3):231-243
Databáze: ScienceDirect