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• W2043284614 abstract "To the editor:Partial albinism and primary immunodeficiency occur in several autosomal recessive disorders, including Hermansky-Pudlak syndrome type 2 (HPS2, Online Mendelian Inheritance in Man [MIM] #608233), Chediak-Higashi syndrome (MIM#214500), Griscelli syndrome types 1 (MIM#214450) and 2 (" @default.
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• W2043284614 date "2012-03-29" @default.
• W2043284614 modified "2023-09-27" @default.
• W2043284614 title "Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak–like primary immunodeficiency syndrome" @default.
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• W2043284614 doi "https://doi.org/10.1182/blood-2012-01-404350" @default.
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