Article
Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families.
Current issues in molecular biology - 27 Oct 2021
Fazia Teresa, Marzanati Daria, Carotenuto Anna Laura, Beecham Ashley, Hadjixenofontos Athena, McCauley Jacob L, Saddi Valeria, Piras Marialuisa, Bernardinelli Luisa, Gentilini Davide
Abstract excerpt
Multiple Sclerosis (MS) is a complex multifactorial autoimmune disease, whose sex- and age-adjusted prevalence in Sardinia (Italy) is among the highest worldwide. To date, 233 loci were associated with MS and almost 20% of risk heritability is attributable to common genetic variants, but many low-frequency and rare variants remain to be discovered. Here, we aimed to contribute to the understanding of the genetic...
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