Genome‐wide linkage analysis and whole‐exome sequencing identifies anITGA2Bmutation in a family with thrombocytopenia-Reference-Cited by-同舟云学术

Genome‐wide linkage analysis and whole‐exome sequencing identifies anITGA2Bmutation in a family with thrombocytopenia

Published:2019-05-23 Issue:4 Volume:186 Page:574-579
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Khoriaty Rami¹²³^ORCID,Ozel Ayse B.⁴,Ramdas Shweta⁵,Ross Charles⁶,Desch Karl⁷,Shavit Jordan A.⁷,Everett Lesley⁴,Siemieniak David⁸,Li Jun Z.⁴⁵,Ginsburg David¹⁴⁷⁸⁹

Affiliation:

1. Department of Internal Medicine University of Michigan Ann Arbor MI USA

2. Program in Cellular and Molecular Biology University of Michigan Ann Arbor MI USA

3. University of Michigan Rogel Cancer Center Univeristy of Michigan Ann Arbor MI USA

4. Department of Human Genetics University of Michigan Ann Arbor MI USA

5. Department of Computational Medicine and Bioinformatics University of Michigan Ann Arbor MI USA

6. Department of Pathology University of Michigan Ann Arbor MI USA

7. Department of Pediatrics and Communicable Disease University of Michigan Ann Arbor MI USA

8. Life Sciences Institute University of Michigan Ann Arbor MI USA

9. Howard Hughes Medical Institute University of Michigan Ann Arbor MI USA

Funder

National Heart, Lung, and Blood Institute

Howard Hughes Medical Institute

National Center for Advancing Translational Sciences

American Society of Hematology

University of Michigan

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.15961

Reference15 articles.

1. Genetics of familial forms of thrombocytopenia

2. Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

3. A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the αIIbβ3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia

4. Dominant inheritance of a novel integrin 3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families

5. A defect of platelet aggregation associated with an abnormal distribution of glycoprotein IIb‐IIIa complexes within the platelet: the cause of a lifelong bleeding disorder;Hardisty R.;Blood,1992

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