Article
Genetic analysis of aquaporin-4 in neuromyelitis optica.
Neurology - 20 Sept 2011
Matiello M, Schaefer-Klein J L, Hebrink D D, Kingsbury D J, Atkinson E J, Weinshenker B G
Abstract excerpt
OBJECTIVE: Autoantibodies to aquaporin-4 (AQP4) are specific and pathogenic for neuromyelitis optica (NMO). Therefore, we evaluated whether AQP4 single-nucleotide polymorphisms (SNPs) are associated with susceptibility to NMO or whether mutations that potentially alter AQP4 structure or expression are present in some patients. METHODS: We genotyped 8 AQP4 SNPs chosen based on their minor allele frequency,...
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