Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1

Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1

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 pheno...

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Bibliographic Details
Main Authors: Matt Wenham, Samantha Grieve, Michelle Cummins, Matthew L. Jones, Sarah Booth, Rachel Kilner, Philip J. Ancliff, Gillian M. Griffiths, Andrew D. Mumford
Format: Article
Language:English
Published: Ferrata Storti Foundation 2010-02-01
Series:Haematologica
Online Access:https://haematologica.org/article/view/5507

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https://haematologica.org/article/view/5507

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