TY  - JOUR
AU  - Vieitez, I
AU  - Gallano, P
AU  - González-Quereda, L
AU  - Borrego, S
AU  - Marcos, I
AU  - Millán, J M
AU  - Jairo, T
AU  - Prior, C
AU  - Molano, J
AU  - Trujillo-Tiebas, M J
AU  - Gallego-Merlo, J
AU  - García-Barcina, M
AU  - Fenollar, M
AU  - Navarro, C
PY  - 2016
DO  - 10.1016/j.nrl.2015.12.009
UR  - http://hdl.handle.net/10668/9910
T2  - Neurologia (Barcelona, Spain)
AB  - Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disease that affects one in 3500 live-born males. The total absence of dystrophin observed in DMD patients is generally caused by mutations that disrupt the reading frame...
LA  - en
KW  - Análisis mutacional
KW  - Diagnóstico genético
KW  - Distrofia muscular Duchenne
KW  - Duchenne muscular dystrophy
KW  - Genetic diagnosis
KW  - Multiplex ligation-dependent probe amplification
KW  - Mutational analysis
KW  - Secuenciación
KW  - Sequencing
KW  - Adult
KW  - DNA Mutational Analysis
KW  - Dystrophin
KW  - Gene Deletion
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Muscular Dystrophy, Duchenne
KW  - Spain
TI  - Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
T2  - Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos.
TY  - research article
VL  - 32
ER  -