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Abstracts tagged "Genetics and pathogenesis"

  • Abstract Number: 2650 • ACR/ARHP Annual Meeting 2017

    Analysis of C9Orf72 Expansions in Patients with Systemic Lupus Erythematosus and Rheumatoid Arthritis: Preliminary Data

    Micaela Fredi1, Giorgio Biasiotto2, Franco Franceschini3, Massimiliano Filosto4, Alessandro Padovani4, Angela Tincani5, Isabella Zanella2 and Ilaria Cavazzana3, 1Department of Rheumatology and Clinical Immunology, Rheumatology and Clinical Immunology, Rheumatology and Clinical Immunology, Spedali Civili of Brescia, Brescia, Italy, 2Department of Molecular and Translational Medicine and Biotechnology Laboratory, Department of Diagnostics, University of Brescia and Spedali Civili, Brescia, Italy, 3Rheumatology and Clinical Immunology, Spedali Civili of Brescia, Brescia, Italy, 4Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, Spedali Civili and University of Brescia, Brescia, Italy, 5Rheumatology and Clinical Immunology, Spedali Civili and University of Brescia, Brescia, Italy

    Background/Purpose: The most frequent genetic cause of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Dementia (FTLD) is a large hexanucleotide expansion (>30, mostly hundred/thousand repeats)…

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