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Article

The Beige/Chediak-Higashi Syndrome Gene Encodes a Widely Expressed Cytosolic Protein

1 Nov 1997

Abstract excerpt

The human autosomal recessive disorder Chediak-Higashi syndrome and its murine homologue beige are associated with the formation of giant lysosomes that cluster near the perinuclear region of cells. We prepared a polyclonal antiserum against a glutathione S-transferase-Beige fusion protein and demonstrated by Western analysis that the beige gene encodes a protein of 400 kDa that is expressed in cultured murine...

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PMID: 9368050
DOI: 10.1074/jbc.272.47.29790

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Related research

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Research trail→

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The Beige/Chediak-Higashi Syndrome Gene Encodes a Widely Expressed Cytosolic ProteinPMID 9368050Read ↗

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Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25.Semantic proximity Read ↗

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