Article
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
Haematologica - 1 Feb 2010
Wenham Matt, Grieve Samantha, Cummins Michelle, Jones Matthew L, Booth Sarah, Kilner Rachel, Ancliff Philip J, Griffiths Gillian M, Mumford Andrew D
Abstract excerpt
Hermansky Pudlak syndrome type 2 (HPS2) is a rare disorder associated with mutations in the Adaptor Protein 3 (AP-3) complex, which is involved in sorting transmembrane proteins to lysosomes and related organelles. We now report 2 unrelated subjects with HPS2 who show a characteristic clinical phenotype of oculocutaneous albinism, platelet and T-lymphocyte dysfunction and neutropenia. The subjects were homozygous...
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