MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene.

Luce, Leonela N; Dalamon, Viviana; Ferrer, Marcela; Parma, Diana; Szijan, Irene; Giliberto, Florencia

Luce, Leonela N; Dalamon, Viviana; Ferrer, Marcela; Parma, Diana; Szijan, Irene; Giliberto, Florencia.

Afiliación

Luce LN; Laboratory of Dystrophinopathies, Department of Genetics, School of Pharmacy and Biochemistry, University of Buenos Aires, Buenos Aires, Argentina. Electronic address: leonelaluce@gmail.com.
Dalamon V; INGEBI CONICET, Buenos Aires, Argentina.
Ferrer M; Molecular Neurobiology Laboratory, Neurosurgery Division, Hospital de Clínicas "José de San Martín", University of Buenos Aires, Buenos Aires, Argentina.
Parma D; Laboratory of Dystrophinopathies, Department of Genetics, School of Pharmacy and Biochemistry, University of Buenos Aires, Buenos Aires, Argentina.
Szijan I; Laboratory of Dystrophinopathies, Department of Genetics, School of Pharmacy and Biochemistry, University of Buenos Aires, Buenos Aires, Argentina.
Giliberto F; Laboratory of Dystrophinopathies, Department of Genetics, School of Pharmacy and Biochemistry, University of Buenos Aires, Buenos Aires, Argentina.

J Neurol Sci ; 365: 22-30, 2016 Jun 15.

Article en En | MEDLINE | ID: mdl-27206868

Asunto(s)

Distrofina/genética; Enfermedades Genéticas Ligadas al Cromosoma X/genética; Intrones; Repeticiones de Microsatélite; Distrofias Musculares/genética; Mutación; Argentina; Estudios de Cohortes; Femenino; Humanos; Masculino; Reacción en Cadena de la Polimerasa Multiplex

Palabras clave

Carrier detection; Duchenne Muscular Dystrophy; Dystrophinopathies; Gene characterization; MLPA analysis; Molecular diagnosis

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Intrones / Distrofina / Repeticiones de Microsatélite / Enfermedades Genéticas Ligadas al Cromosoma X / Distrofias Musculares / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: America do sul / Argentina Idioma: En Revista: J Neurol Sci Año: 2016 Tipo del documento: Article

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