Rodrigues, M.O.Pereira, J.D.Gaspar, G.Olim, G.Martins, M.C.Monteiro, C.2012-01-032012-01-032004-03-29J Clin Lab Anal. 2004;18(2):129-310887-8013doi:10.1002/jcla.20010http://hdl.handle.net/10400.18/347In Portugal there are a wide variety of G6PD deficiency associated mutations. In an individual from the island of Flores of the Azorean archipelago, we report a new mutation in the G6PD gene that gives rise to a "moderate rate of G6PD deficiency" (12.6% of the normal activity) according to WHO criteria. Direct sequencing revealed a C-->A point mutation at position 1387 with the consequent substitution of an Argine by Serine. We designated this new mutation as G6PD FLORES. The mutation is associated with haplotype I ( - - + + - - ), using six intragenic RFLPs. This information may also be seen as contributing to the clarification of the genetic makeup of the Azorean population, founder mutations, and/or gene flow.engHaplotypeLinkage desequilibriumAzoresPortugalPatologias do Glóbulo Vermelhojournal article