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Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype.
Volkening, Kathryn; Farhan, Sali M K; Kao, Jessica; Leystra-Lantz, Cheryl; Ang, Lee Cyn; McIntyre, Adam; Wang, Jian; Hegele, Robert A; Strong, Michael J.
  • Volkening K; Molecular Medicine, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
  • Farhan SMK; Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
  • Kao J; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.
  • Leystra-Lantz C; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
  • Ang LC; Molecular Medicine, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
  • McIntyre A; Molecular Medicine, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
  • Wang J; Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
  • Hegele RA; Department of Pathology and Laboratory Medicine, London Health Sciences Centre-University Hospital, London, ON, Canada.
  • Strong MJ; Blackburn Cardiovascular Genetics Lab, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Mol Cell Biochem ; 476(7): 2633-2650, 2021 Jul.
Article en En | MEDLINE | ID: mdl-33661429
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ADN Helicasas / ARN Helicasas / Mutación Missense / Proteína FUS de Unión a ARN / Lamina Tipo A / Enzimas Multifuncionales / Esclerosis Amiotrófica Lateral / Lipodistrofia Límite: Female / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ADN Helicasas / ARN Helicasas / Mutación Missense / Proteína FUS de Unión a ARN / Lamina Tipo A / Enzimas Multifuncionales / Esclerosis Amiotrófica Lateral / Lipodistrofia Límite: Female / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article