Comparison of mutation profiles in the duchenne muscular dystrophy gene among populations: Implications for potential molecular therapies

International Journal of Molecular Sciences

Volumn 16, Issue 3, 2015, Pages 5334-5346

  López Hernández, Luz Berenice ^a,b   Gómez Díaz, Benjamín ^c   Luna Angulo, Alexandra Berenice ^d   Anaya Segura, Mónica ^b,e   Bunyan, David John ^f   Zúñiga Guzman, Carolina ^b,e   Escobar Cedillo, Rosa Elena ^c   Roque Ramírez, Bladimir ^a   Ruano Calderón, Luis Angel ^g   Rangel Villalobos, Héctor ^e   López Hernández, Julia Angélica ^h   Estrada Mena, Francisco Javier ^d   García, Silvia ^a   Coral Vázquez, Ramón Mauricio ⁱ  

^a National Medical Centre 20 de Noviembre   (Mexico)

^b Asociación de Distrofia Muscular de Occidente A C   (Mexico)

^c National Institute of Rehabilitation   (Mexico)

^d UNIVERSIDAD PANAMERICANA   (Mexico)

^e UNIVERSITY OF GUADALAJARA   (Mexico)

^f SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^g Durango General Hospital   (Mexico)

^h LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ INSTITUTO POLITÉCNICO NACIONAL   (Mexico)

Author keywords

Ataluren; DMD gene; Duchenne; Exon skipping; MLPA; Therapies

Indexed keywords

ATALUREN; DRISAPERSEN; DYSTROPHIN; ETEPLIRSEN; DMD PROTEIN, HUMAN;

ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; EXON SKIPPING; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; INTERNAL RIBOSOME ENTRY SITE; MAJOR CLINICAL STUDY; MOLECULAR THERAPY; MUSCLE ATROPHY; MUSCLE WEAKNESS; STOP CODON; EXON; GENE FREQUENCY; GENE THERAPY; GENETICS; MEXICO; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION;

DYSTROPHIN; EXONS; GENE FREQUENCY; GENETIC THERAPY; HUMANS; MEXICO; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION;

EID: 84925852856     PISSN: 16616596     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms16035334     Document Type: Article

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