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- databases for immunodeficiency-causing variations

   MLPHbase
   Variation registry for  Griscelli syndrome, type 3 (GS3)


MLPHbase mutation publications

[2003]

Search PubMed latest citations for MLPH mutations

    2003

  • Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).
    Ménasché G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G
    J Clin Invest 2003(3): 450-6 [PubMed abstract].