SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

Journal of Clinical Investigation

Volumn 125, Issue 9, 2015, Pages 3600-3605

  Fletcher, Sarah J ^a   Johnson, Ben ^a   Lowe, Gillian C ^a   Bem, Danai ^a   Drake, Sian ^a   Lordkipanidzé, Marie ^a   Guiu, Isabel Sánchez ^a,b   Dawood, Ban ^a   Rivera, José ^b   Simpson, Michael A ^c   Daly, Martina E ^d   Motwani, Jayashree ^e   Collins, Peter W ^f   Watson, Steve P ^a   Morgan, Neil V ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b UNIVERSITY OF MURCIA   (Spain)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF SHEFFIELD   (United Kingdom)

^e BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^f CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; C REACTIVE PROTEIN; COLLAGEN; GUANOSINE TRIPHOSPHATE; MESSENGER RNA; PROTEINASE ACTIVATED RECEPTOR 1; CELL CYCLE PROTEIN;

ARTICLE; BLEEDING; CONTROLLED STUDY; DOMINANT INHERITANCE; ELECTRON MICROSCOPY; EXOME; FLOW CYTOMETRY; GENE; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HEK293 CELL LINE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SCHLAFEN 14 GENE; THROMBOCYTE COUNT; THROMBOCYTE RELEASE REACTION; THROMBOCYTE VOLUME; THROMBOCYTOPENIA; WESTERN BLOTTING; WILD TYPE; AMINO ACID SUBSTITUTION; BINDING SITE; CLINICAL TRIAL; FEMALE; GENETICS; MALE; METABOLISM; MULTICENTER STUDY; PATHOLOGY; SECRETION (PROCESS); SECRETORY VESICLE; THROMBOCYTE; ULTRASTRUCTURE; UNITED KINGDOM;

AMINO ACID SUBSTITUTION; BINDING SITES; BLOOD PLATELETS; CELL CYCLE PROTEINS; FEMALE; GREAT BRITAIN; HEMORRHAGE; HUMANS; MALE; MUTATION, MISSENSE; SECRETORY VESICLES; THROMBOCYTOPENIA;

EID: 84941729748     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI80347     Document Type: Article

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