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Article

A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism

23 Mar 2016

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 27016801
DOI: 10.1016/j.jaci.2015.12.1337

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Related research

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A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinismPMID 27016801Read ↗

Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.Semantic proximity Read ↗

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Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.Semantic proximity Read ↗

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Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.Semantic proximity Read ↗

Rab27b is Up‐Regulated in Human Griscelli Syndrome Type II Melanocytes and Linked to the Actin Cytoskeleton via Exon F‐Myosin Va TranscriptsSemantic proximity Read ↗

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