Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects-Reference-Cited by-同舟云学术

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

Published:2013-12-12 Issue:25 Volume:122 Page:4090-4093
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Stockley Jacqueline¹,Morgan Neil V.²,Bem Danai²,Lowe Gillian C.²,Lordkipanidzé Marie²,Dawood Ban²,Simpson Michael A.³,Macfarlane Kirsty²,Horner Kevin⁴,Leo Vincenzo C.¹,Talks Katherine⁵,Motwani Jayashree⁶,Wilde Jonathan T.⁷,Collins Peter W.⁸,Makris Michael¹,Watson Steve P.²,Daly Martina E.¹

Affiliation:

1. Department of Cardiovascular Science, University of Sheffield Medical School, University of Sheffield, Sheffield, United Kingdom;

2. Centre for Cardiovascular Sciences, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom;

3. Division of Genetics and Molecular Medicine, King’s College London School of Medicine, Guy’s Hospital, London, United Kingdom;

4. Department of Coagulation, Royal Hallamshire Hospital, Sheffield, United Kingdom;

5. Department of Haematology, Royal Victoria Infirmary, Newcastle Upon Tyne, United Kingdom;

6. Department of Haematology, Birmingham Children’s Hospital, Birmingham, United Kingdom;

7. Adult Haemophilia Centre, Queen Elizabeth Hospital, Birmingham, United Kingdom; and

8. Arthur Bloom Haemophilia Centre, School of Medicine, Cardiff University, Cardiff, United Kingdom

Abstract

Key Points Novel FLI1 and RUNX1 alterations were identified in 6 of 13 patients with excessive bleeding and platelet granule secretion defects. Two FLI1 alterations predicting amino acid substitutions in the DNA-binding domain of FLI1 abolished transcriptional activity of FLI1.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/122/25/4090/1371571/4090.pdf

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