Novel mutation in Hermansky–Pudlak syndrome type 2 with mild immunological phenotype-Reference-Cited by-同舟云学术

Novel mutation in Hermansky–Pudlak syndrome type 2 with mild immunological phenotype

Published:2012-12-05 Issue:7 Volume:24 Page:538-543
ISSN:0953-7104
Container-title:Platelets
language:en
Short-container-title:Platelets

Author:

Kurnik Karin,Bartsch Ingrid,Maul-Pavicic Andrea,Ehl Stephan,Sandrock-Lang Kirstin,Bidlingmaier Christoph,Rombach Nina,Busse Anja,Belohradsky Bernd H.,Müller-Höcker Josef,Aslanidis Charalampos,Schmitz Gerd,Zieger Barbara

Publisher

Informa UK Limited

Subject

Hematology,General Medicine

Link

http://www.tandfonline.com/doi/pdf/10.3109/09537104.2012.741275

Reference22 articles.

1. Albinism Associated with Hemorrhagic Diathesis and Unusual Pigmented Reticular Cells in the Bone Marrow: Report of Two Cases with Histochemical Studies

2. Lysosome-related organelles

3. Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the β3A Subunit of the AP-3 Adaptor

4. Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2

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