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Article

Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.

Blood - 1 Apr 2003

Menasche Gaël, Feldmann Jérôme, Houdusse Anne, Desaymard Catherine, Fischer Alain, Goud Bruno, de Saint Basile Genèvieve

Abstract excerpt

Rab27a is a member of the Rab family of small GTPase proteins, and thus far is the first member to be associated with a human disease (ie, the Griscelli syndrome type 2). Mutations in the Rab27a gene cause pigment as well as cytotoxic granule transport defects, accounting for the partial albinism...

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Source

Identifiers

PMID: 12446441
DOI: 10.1182/blood-2002-09-2789

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12446441-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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