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Article

NK cytotoxicity mediated by CD16 but not by NKp30 is functional in Griscelli syndrome.

Blood - 15 May 2007

Gazit Roi, Aker Memet, Elboim Moran, Achdout Hagit, Katz Gil, Wolf Dana G, Katzav Shulamit, Mandelboim Ofer

Abstract excerpt

Griscelli syndrome (GS) type 2 is an autosomal recessive disorder represented by pigment dilution and impaired cytotoxic T lymphocyte (CTL) activity. NK activity has been scarcely investigated in GS patients. Here, we describe a new patient, possessing a hemophagocytic syndrome with a homozygous Q118X nonsense RAB27A mutation. Single specific primer-polymerase chain reaction (SSP-PCR) was developed based on this...

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Share to Antibody-Dependent Cell Cytotoxicity
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17255357
DOI: 10.1182/blood-2006-09-047159

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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NK cytotoxicity mediated by CD16 but not by NKp30 is functional in Griscelli syndrome.PMID 17255357Read ↗

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