Complete nanopore repeat sequencing of SCA27B (GAA- FGF14 ataxia) in Japanese.
Satoko MiyatakeHiroshi DoiHiroaki YaguchiEriko KoshimizuNaoki KiharaTomoyasu MatsubaraYasuko MoriKenjiro KuniedaYusaku ShimizuTomoko ToyotaShinichi ShiraiMasaaki MatsushimaMasaki OkuboTaishi WadaMisako KuniiKen JohkuraRyosuke MiyamotoYusuke OsakiTakabumi MiyamaMai SatohAtsushi FujitaYuri UchiyamaNaomi TsuchidaKazuharu MisawaKohei HamanakaHaruka HamanoueTakeshi MizuguchiHiroyuki MorinoYuishin IzumiTakayoshi ShimohataKunihiro YoshidaHiroaki AdachiFumiaki TanakaIchiro YabeNaomichi MatsumotoPublished in: Journal of neurology, neurosurgery, and psychiatry (2024)
repeat expansion has unique features of pathogenicity and allelic origin, as revealed by a single ethnic study.