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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| Hauptverfasser: | , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Ferrata Storti Foundation
2010-02-01
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| Schriftenreihe: | Haematologica |
| Online-Zugang: | https://haematologica.org/article/view/5507 |
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