title: The Added Value of Family Material in the Discovery of Multiple Sclerosis Genes.
abstract: A mutation in a nuclear receptor (NR1H3) gene was detected in a familial, progressive form of multiple sclerosis (PPMS). Further analyses showed a significant association between a common NR1H3 variant in PPMS patients and loss of function for the encoded protein.
authors.affiliation: Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
authors.forename: Heather S
authors.initials: HS
authors.lastname: Hain
authors.affiliation: Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: hakonarson@email.chop.edu.
authors.forename: Hakon
authors.initials: H
authors.lastname: Hakonarson
mesh_terms: D006801:Humans; D009103:Multiple Sclerosis / Q000235:genetics*; D020528:Multiple Sclerosis, Chronic Progressive / Q000235:genetics*; D009154:Mutation
keywords: nuclear receptor; progressive multiple sclerosis