Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype.

Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype.

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http://www.wikidata.org/entity/Q37398081
Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment optionsCongenital platelet disorders and understanding of platelet function.αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.Diagnosis and treatment of inherited thrombocytopenias.Molecular basis of inherited thrombocytopenias.Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia[New perspectives on the role of αIIbβ3 integrin in defective megakaryopoiesis].A Novel Pentapeptide Targeting Integrin β3-Subunit Inhibits Platelet Aggregation and Its Application in Rat for Thrombosis Prevention.Inherited disorders of platelet function: selected updates.Structural basis of blocking integrin activation and deactivation for anti-inflammationMutations of the integrin αIIb/β3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet α-granules.High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders.A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations.Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?
P2860

Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype.

Item
http://www.wikidata.org/entity/Q37398081
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 22 April 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Demonstration of novel gain-of ...... thrombasthenia-like phenotype.
@en
Demonstration of novel gain-of ...... thrombasthenia-like phenotype.
@nl
type
label
Demonstration of novel gain-of ...... thrombasthenia-like phenotype.
@en
Demonstration of novel gain-of ...... thrombasthenia-like phenotype.
@nl
prefLabel
Demonstration of novel gain-of ...... thrombasthenia-like phenotype.
@en
Demonstration of novel gain-of ...... thrombasthenia-like phenotype.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P921
P932
P356
P1433
P1476
Demonstration of novel gain-of ...... thrombasthenia-like phenotype.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P921
P932