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Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs.
Bolduc, Véronique; Minor, Katie M; Hu, Ying; Kaur, Rupleen; Friedenberg, Steven G; Van Buren, Samantha; Guo, Ling T; Glennon, Joseph C; Marioni-Henry, Katia; Mickelson, James R; Bönnemann, Carsten G; Shelton, G Diane.
Afiliação
  • Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-3705, USA.
  • Minor KM; Department of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN, USA.
  • Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-3705, USA.
  • Kaur R; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-3705, USA.
  • Friedenberg SG; Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN, USA.
  • Van Buren S; Department of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN, USA.
  • Guo LT; Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA 92093-0709, USA.
  • Glennon JC; Veterinary Specialties, Pattersonville, NY, USA.
  • Marioni-Henry K; Royal (Dick) School of Veterinary Studies, University of Edinburgh, United Kingdom.
  • Mickelson JR; Department of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN, USA.
  • Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-3705, USA. Electronic address: carsten.bonnemann@nih.gov.
  • Shelton GD; Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA 92093-0709, USA. Electronic address: gshelton@ucsd.edu.
Neuromuscul Disord ; 30(5): 360-367, 2020 05.
Article em En | MEDLINE | ID: mdl-32439203

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colágeno Tipo VI / Distrofias Musculares Limite: Animals Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colágeno Tipo VI / Distrofias Musculares Limite: Animals Idioma: En Ano de publicação: 2020 Tipo de documento: Article