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Chitinase 3-like-1 (CHI3L1) as Biomarker for Hermansky-Pudlak Pulmonary Fibrosis

Overview Hermansky-Pudlak syndrome (HPS) is a group of autosomal recessive disorders caused by mutations that affect the function of lysosome-related organelles (LROs). All HPS patients have oculocutaneous albinism with visual impairment, and many have blood platelet dysfunction with bleeding disorder. HPS-1 and HPS-4 patients, who have mutations of...

Published: 1/21/2023 | Inventor(s): Jack Elias, Chun Geun Lee, Yang Zhu

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Category(s): Therapy Targets