SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia

Thrombosis and Haemostasis

Volumn 115, Issue 5, 2016, Pages 1076-1079

  Marconi, Caterina ^a   Di Buduo, Christian A ^b   Barozzi, Serena ^c   Palombo, Flavia ^a   Pardini, Simonetta ^d   Zaninetti, Carlo ^c   Pippucci, Tommaso ^a   Noris, Patrizia ^c   Balduini, Alessandra ^b,e   Seri, Marco ^a   Pecci, Alessandro ^c  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^d UNIVERSITY HOSPITAL OF SASSARI   (Italy)

^e Tufts University   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN RECEPTOR; GLYCOPROTEIN IB ALPHA; PLASMA PROTEIN;

ADULT; AGED; ALGORITHM; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FEMALE; FLOW CYTOMETRY; FLUORESCENCE MICROSCOPY; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOBLOTTING; LETTER; MEGAKARYOCYTE; PEDIGREE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; SLFN14 GENE; THROMBOCYTOPENIA; AMINO ACID SUBSTITUTION; BLOOD; CASE REPORT; DNA MUTATIONAL ANALYSIS; GENETICS; MALE; MEAN PLATELET VOLUME; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; THROMBOCYTE; WHOLE EXOME SEQUENCING;

ADULT; AGED; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BLOOD PLATELETS; BLOOD PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MEAN PLATELET VOLUME; MUTATION, MISSENSE; PEDIGREE; THROMBOCYTOPENIA; WHOLE EXOME SEQUENCING;

EID: 84964894162     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH15-11-0884     Document Type: Letter

References (15)

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