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

Blood

Volumn 101, Issue 7, 2003, Pages 2736-2742

  Ménasché, Gaël ^b   Feldmann, Jérôme ^b   Houdusse, Anne ^b   Desaymard, Catherine ^b   Fischer, Alain ^b   Goud, Bruno ^b   De Saint Basile, Geneviève ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE DIPHOSPHATE; GUANOSINE TRIPHOSPHATE; PROTEIN; RAB27A PROTEIN; UNCLASSIFIED DRUG; RAB PROTEIN; RAB27A PROTEIN, HUMAN; RAB27A PROTEIN, MOUSE;

ALBINISM; ANIMAL CELL; ARTICLE; CELL GRANULE; CELL TRANSPORT; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOTOXICITY; EXOCYTOSIS; GENE MUTATION; GRISCELLI SYNDROME; HUMAN; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FOLDING; PROTEIN FUNCTION; AMINO ACID SUBSTITUTION; ANIMAL; CELL LINE; DEGRANULATION; GENETICS; IMMUNE DEFICIENCY; MELANOCYTE; MELANOSOME; METABOLISM; MUTATION; PATHOLOGY; PROTEIN BINDING; SYNDROME; ULTRASTRUCTURE;

ALBINISM; AMINO ACID SUBSTITUTION; ANIMALS; CELL DEGRANULATION; CELL LINE; GUANOSINE DIPHOSPHATE; GUANOSINE TRIPHOSPHATE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MELANOCYTES; MELANOSOMES; MICE; MUTATION; PROTEIN BINDING; RAB GTP-BINDING PROTEINS; SYNDROME;

EID: 0038107403     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-09-2789     Document Type: Article

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