Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
作者: Hidekane YoshimuraSatoshi IwasakiShin-Ya NishioKozo KumakawaTetsuya TonoYumiko KobayashiHiroaki SatoKyoko NagaiKotaro IshikawaTetsuo IkezonoYasushi NaitoKunihiro FukushimaChie OshikawaTakashi KimitsukiHiroshi NakanishiShin-Ichi Usami
刊名: PLoS ONE, 2017, Vol.9 (3)
来源数据库: Directory of Open Access Journals
DOI: 10.1371/journal.pone.0090688
原始语种摘要: Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack of vestibular responses, and retinitis pigmentosa that appears in prepuberty. Six of the corresponding genes have been identified, making early diagnosis through DNA testing possible, with many immediate and several long-term advantages for patients and their families. However, the conventional genetic techniques, such as direct sequence analysis, are both time-consuming and expensive. Targeted exon sequencing of selected genes using the massively parallel DNA sequencing technology will potentially enable us to systematically tackle previously...
全文获取路径: DOAJ  (合作)
影响因子:3.73 (2012)

  • syndrome 症候群
  • vestibular 前厅的
  • sequencing 排序
  • hearing 听觉
  • pigmentosa 眼点
  • retinitis 视网膜炎
  • profound 深的
  • intractable 不治的
  • parallel 平行的
  • potentially 可能地