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Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.
Hu, Ying; Mohassel, Payam; Donkervoort, Sandra; Yun, Pomi; Bolduc, Véronique; Ezzo, Daniel; Dastgir, Jahannaz; Marshall, Jamie L; Lek, Monkol; MacArthur, Daniel G; Foley, A Reghan; Bönnemann, Carsten G.
Afiliación
  • Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Yun P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Ezzo D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Dastgir J; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Marshall JL; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Lek M; Department of Pediatric Neurology, Goryeb Children's Hospital, Morristown, NJ, USA.
  • MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Foley AR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Bönnemann CG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
J Neuromuscul Dis ; 6(4): 475-483, 2019.
Article en En | MEDLINE | ID: mdl-31498126
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Calpaína / Empalme del ARN / Distrofia Muscular de Cinturas / Proteínas Musculares / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: J Neuromuscul Dis Año: 2019 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Calpaína / Empalme del ARN / Distrofia Muscular de Cinturas / Proteínas Musculares / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: J Neuromuscul Dis Año: 2019 Tipo del documento: Article