A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5) identified in autosomal dominant thrombocytopenia

Journal of Thrombosis and Haemostasis

Volumn 8, Issue 9, 2010, Pages 2085-2087

  Punzo, F ^a,b   Mientjes, E J ^a   Rohe, C F ^a   Scianguetta, S ^b   Amendola, G ^c   Oostra, B A ^a   Bertoli Avella, A M ^a   Perrotta, S ^b  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c Ospedale di Nocera Inferiore   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A BINDING DOMAIN CONTAINING PROTEIN 5; DIAZEPAM BINDING INHIBITOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; THROMBOCYTOPENIA;

ACYL COENZYME A; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SEQUENCE; EXONS; FEMALE; GENES, DOMINANT; GENETIC VARIATION; HAPLOTYPES; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID; THROMBOCYTOPENIA;

EID: 77956492055     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2010.03979.x     Document Type: Article

References (11)

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