Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
about
Genomic landscape of megakaryopoiesis and platelet function defects[New perspectives on the role of αIIbβ3 integrin in defective megakaryopoiesis].Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.Inherited disorders of platelet function: selected updates.Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.Platelet genomics: the role of platelet size and number in health and disease.In silico analysis of Glanzmann variants of Calf-1 domain of αIIbβ3 integrin revealed dynamic allosteric effect.Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia.Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia.Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent.Novel mutations in Thai patients with glanzmann thrombasthenia.Glanzmann thrombasthenia platelets compete with transfused platelets, reducing the haemostatic impact of platelet transfusions.ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?
P2860
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P2860
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh-hant
name
Expanding the Mutation Spectru ...... a Large International Cohort.
@en
Expanding the Mutation Spectru ...... a Large International Cohort.
@nl
type
label
Expanding the Mutation Spectru ...... a Large International Cohort.
@en
Expanding the Mutation Spectru ...... a Large International Cohort.
@nl
prefLabel
Expanding the Mutation Spectru ...... a Large International Cohort.
@en
Expanding the Mutation Spectru ...... a Large International Cohort.
@nl
P2093
P2860
P50
P356
P1433
P1476
Expanding the Mutation Spectru ...... a Large International Cohort.
@en
P2093
Alan T Nurden
Arnaud Couloux
Diane Nugent
Jenny Goudemand
Juan Pablo Fronthroth
Marc Trossaert
Margaret L Rand
Mariana Bonduel
Marie Dreyfus
Mathieu Fiore
P2860
P304
P356
10.1002/HUMU.22776
P577
2015-05-01T00:00:00Z