Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype.
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| Title: | Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype. |
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| Authors: | Volkening K; Molecular Medicine, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Farhan SMK; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Kao J; Molecular Medicine, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Leystra-Lantz C; Molecular Medicine, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Ang LC; Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Department of Pathology and Laboratory Medicine, London Health Sciences Centre-University Hospital, London, ON, Canada., McIntyre A; Blackburn Cardiovascular Genetics Lab, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Wang J; Blackburn Cardiovascular Genetics Lab, Robarts Research Institute, 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.; Blackburn Cardiovascular Genetics Lab, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Department of Biochemistry, Western University, London, ON, Canada., Strong MJ; Molecular Medicine, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada. mstrong@uwo.ca.; Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada. mstrong@uwo.ca. |
| Source: | Molecular and cellular biochemistry [Mol Cell Biochem] 2021 Jul; Vol. 476 (7), pp. 2633-2650. Date of Electronic Publication: 2021 Mar 04. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Country of Publication: Netherlands NLM ID: 0364456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4919 (Electronic) Linking ISSN: 03008177 NLM ISO Abbreviation: Mol Cell Biochem Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1573-4919 |
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| DOI: | 10.1007/s11010-021-04103-7 |
