ORIGINAL
Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases
I. Vieiteza,b, P. Gallanoc,j, L. González-Queredac,j, S. Borregod,j, I. Marcosd,j, J.M. Milláne,j, T. Jairoe,j, C. Priorf, J. Molanof, M.J. Trujillo-Tiebasg,j, J. Gallego-Merlog,j, M. García-Barcinah, M. Fenollari, C. Navarrob,
Autor para correspondencia
a Grupo de Patología Neonatal y Pediátrica, Enfermedades raras, Instituto de Investigación Biomédica de Ourense-Pontevedra-Vigo (IBI), Vigo, España
b Complexo Hospitalario Universitario de Vigo (CHUVI), SERGAS, Vigo, España
c Departamento de Genética, Hospital de la Santa Creu i Sant Pau, Barcelona, España
d Departamento de Genética, Reproducción y Medicina fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, España
e Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, España
f Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, España
g Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, España
h Unidad de Genética, Hospital Universitario de Basurto, Vizcaya, España
i Sección de Genética Clínica, Servicio de Análisis Clínicos, Hospital Clínico San Carlos, Madrid, España
j CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Instituto de Salud Carlos III, Madrid, España
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