Browsing by Author "Birch, David"

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    • Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosa 

      Guevara Fujita, María Luisa; Fahrner, Stacey; Buraczynska, Kinga; Cook, Jason; Wheaton, Dianna; Cortes, Fanny; Vicencio, Cesar; Pena, Marcela; Fishman, Gerald A.; Mintz-Hittner, Helen; Birch, David; Hoffman, Dennis; Mears, Alan J.; Fujita, Ricardo; Swaroop, Anand (Mutation in Brief, 2000)
      Acceso abierto
      X-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts ...