Novel mutation in Hermansky–Pudlak syndrome type 2 with mild immunological phenotype
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 and Zieger, Barbara
(2013)
Novel mutation in Hermansky–Pudlak syndrome type 2 with mild immunological phenotype.
Platelets 24 (7), pp. 538-543.
Date of publication of this fulltext: 19 Dec 2024 08:44
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| Item type | Article | ||||
| Journal or Publication Title | Platelets | ||||
| Publisher: | INFORMA HEALTHCARE | ||||
|---|---|---|---|---|---|
| Place of Publication: | LONDON | ||||
| Volume: | 24 | ||||
| Number of Issue or Book Chapter: | 7 | ||||
| Page Range: | pp. 538-543 | ||||
| Date | 2013 | ||||
| Institutions | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin | ||||
| Identification Number |
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| Keywords | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; BETA-3A SUBUNIT; AP-3 ADAPTER; PROTEINS; TRAFFICKING; DEFICIENCY; TYROSINASE; DELETION; BINDING; MOUSE; Hermansky-Pudlak syndrome; HPS2; novel mutation; platelet secretion defect; immunodeficiency | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 62917 |
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