A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

PLoS ONE

Volumn 8, Issue 9, 2013, Pages

  Guéguen, Paul ^a,b,c   Rouault, Karen ^a,b,c   Chen, Jian Min ^a,b,d   Raguénès, Odile ^c   Fichou, Yann ^a,d   Hardy, Elisabeth ^d   Gobin, Eric ^e   Pan petesch, Brigitte ^c   Kerbiriou, Mathieu ^a,b   Trouvé, Pascal ^a,b   Marcorelles, Pascale ^b,e   Abgrall, Jean francois ^b,c   Le Maréchal, Cédric ^a,b,c,d   Férec, Claude ^a,b,c,d  

^a INSERM   (France)

^b UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^c CHU MORVAN   (France)

^d SERVICE DE RHUMATOLOGIE   (France)

^e ETABLISSEMENT FRANÇAIS DU SANG   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; ALPHA ACTININ 1;

ACTIN FILAMENT; ADOLESCENT; ADULT; AGED; ALPHA ACTININ 1 GENE; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BINDING SITE; CHROMOSOME 14; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOPLASM; FAMILIAL DISEASE; FEMALE; FRANCE; GENE MAPPING; GENE SEQUENCE; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MEGAKARYOCYTE; MISSENSE MUTATION; NONHUMAN; THROMBOCYTOPENIA;

ACTININ; ADOLESCENT; ADULT; AGED; ANIMALS; BLOOD PLATELETS; BONE MARROW; CERCOPITHECUS AETHIOPS; COS CELLS; FAMILY; FEMALE; FRANCE; GENE EXPRESSION; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PLATELET AGGREGATION; PLATELET COUNT; SEQUENCE ANALYSIS, DNA; THROMBOCYTOPENIA; YOUNG ADULT;

EID: 84884230531     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0074728     Document Type: Article

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