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Example sentences for: griscelli

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Menasche et al . [ 74 ] found mutations in the Rab27A gene in 16 patients with Griscelli's syndrome, an autosomal recessive disorder characterized by defects in skin pigmentation and T-lymphocyte and macrophage activation.
Mutations in the Rab27A gene have also been detected in mice with the coat color mutation ashen , which is regarded as a model for Griscelli's syndrome [ 75 76 ] . Rab24 can be detected in many tissues and cell lines [ 24 25 ] , but expression appears to be highest in neuronal cells [ 25 ] . At present there are no available data specifically linking Rab24 mutations to human disease.