Associated Papers
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.
Maimaris J et al.
Journal of Clinical Immunology, 2024
39607447 (PubMed )
Supplement: 10875_2024_1842_MOESM1_ESM.docx
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Brauer N et al.
Frontiers in Immunology, 2023
The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism.
Lee Y et al.
Annals of Laboratory Medicine, 2022
Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.
Ohishi Y et al.
Frontiers in Immunology, 2020
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2.
Ohbayashi N et al.
Pigment Cell & Melanoma Research, 2010
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