Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment. Interstitial lung disease may also accompany with the disease. Cases are mainly found among individuals with Puer...
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| Materyal Türü: | Kitap |
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Wolters Kluwer Medknow Publications,
2014-01-01T00:00:00Z.
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| Yer Numarası: |
A1234.567 |
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| Kopya Bilgisi 1 | Kütüphanede |