Associated Papers
Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.
Chen J et al.
Frontiers in Pediatrics, 2022
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.
de Boer M et al.
Human Mutation, 2017
Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype.
Kurnik K et al.
Platelets, 2013
Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.
Gochuico BR et al.
Molecular Medicine (cambridge, Mass.), 2012
Novel insights from adaptor protein 3 complex deficiency.
Badolato R et al.
The Journal of Allergy and Clinical Immunology, 2007
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.
Enders A et al.
Blood, 2006
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