Abstracts tagged "Genetics and pathogenesis"

Abstract Number: 2650 • 2017 ACR/ARHP Annual Meeting
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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