Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

Nature Genetics

Volumn 25, Issue 2, 2000, Pages 173-176

  Ménasché, Gaël ^a   Pastural, Elodie ^a   Feldmann, Jérôme ^a   Certain, Stéphanie ^a   Ersoy, Fügen ^b   Dupuis, Sophie ^c   Wulffraat, Nico ^d   Bianchi, Diana ^e   Fischer, Alain ^a,c   Le Deist, Françoise ^a,c   De Saint Basile, Geneviève ^a  

^a INSERM   (France)

^b HACETTEPE UNIVERSITY   (Turkey)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e TUFTS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN;

ARTICLE; CHROMOSOME 15Q; DISEASE ASSOCIATION; EXOCYTOSIS; GENE MAPPING; GENE MUTATION; GRISCELLI SYNDROME; HEMOPHAGOCYTIC SYNDROME; HUMAN; HUMAN CELL; HUMAN TISSUE; MACROPHAGE ACTIVATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKIN PIGMENTATION; SYNDROME DELINEATION; T LYMPHOCYTE ACTIVATION;

B-LYMPHOCYTES; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; CYTOPLASMIC GRANULES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FUNGAL PROTEINS; HOMOZYGOTE; HUMANS; INFANT; INTRONS; LINKAGE (GENETICS); LYMPHOCYTE ACTIVATION; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYOSIN TYPE I; MYOSINS; PIGMENTATION DISORDERS; RAB GTP-BINDING PROTEINS; SACCHAROMYCES CEREVISIAE PROTEINS; SYNDROME; T-LYMPHOCYTES, CYTOTOXIC;

EID: 0344002689     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/76024     Document Type: Article

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