Ontology highlight
ABSTRACT:
SUBMITTER: Wenham M
PROVIDER: S-EPMC2817039 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
Wenham Matt M Grieve Samantha S Cummins Michelle M Jones Matthew L ML Booth Sarah S Kilner Rachel R Ancliff Philip J PJ Griffiths Gillian M GM Mumford Andrew D AD
Haematologica 20090813 2
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 for different deletions within AP3B1 (g.del180242-180866, c.del153-156), which enco ...[more]