HPS Network Inc.
egilea: igrodri1
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Artista | igrodri1 |
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Eguneko erabiltzaileak | 1 |
Lizentzia |
ermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). HPS also causes Pulmonar Fibrosis
It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans.
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